Hereditary Spherocytosis - NORD (National Organization for Rare Disorders) (2023)

Hereditary Spherocytosis

NORD gratefully acknowledges Ellie Westfall, MMSc, NORD Editorial Intern from the Emory University Genetic Counseling Training Program and Cecelia A. Bellcross, PhD, MS, CGC, Associate Professor, Director, Genetic Counseling Training Program, Emory University School of Medicine, for assistance in the preparation of this report.

Synonyms of Hereditary Spherocytosis

  • acholuric jaundice
  • chronic acholuric jaundice
  • congenital hemolytic anemia
  • congenital hemolytic jaundice
  • congenital spherocytic anemia
  • hereditary spherocytic hemolytic anemia
  • HS
  • icterus (chronic familial)
  • Minkowski-Chauffard syndrome
  • SPH2
  • spherocytic anemia
  • spherocytosis

General Discussion

Summary

Hereditary spherocytosis (HS) is an inherited disease that affects the red blood cells. Characteristic symptoms of HS are the destruction of red blood cells in the spleen and their removal from the blood stream (hemolytic anemia), a yellow tone to the skin (jaundice), and an enlarged spleen (splenomegaly). HS affects about 1 in 2,000 individuals in North America. People with HS have been reported in other areas of the world as well. HS is caused by genetic changes in five different genes; ANK1, SLC4A1, SPTA1, SPTB, and EPB42. Age of onset varies, but often occurs between 3 – 7 years of age. Symptoms can develop in infancy, but some people with HS have no symptoms or minor symptoms and are diagnosed later in life. Suspicion for HS is based on clinical features and a family history of spherocytosis or related symptoms. Diagnosis is confirmed based on blood tests. Surgical removal of the spleen (splenectomy) is used as a cure for HS in the case of severe anemia. Other treatments include extra folate (folate supplementation) and blood transfusions.

Signs & Symptoms

HS is divided into mild, moderate, and severe forms of the disease. Classification is based on the amounts of hemoglobin, reticulocytes, and bilirubin and the amount of spectrin in red blood cells. Hemoglobin transports oxygen in the blood. Reticulocytes are immature red blood cells. Bilirubin is formed in the liver when hemoglobin is broken down. Spectrin is a protein that helps keep the shape of a cell. Decreased hemoglobin and spectrin and increased reticulocytes and bilirubin are associated with more severe HS. People with severe HS are usually diagnosed at younger ages than those with moderate or mild disease. Those with mild HS may have compensated hemolysis. This means that red blood cells are created at the same rate as they are destroyed. These individuals may not have noticeable symptoms, and thus be diagnosed later in life.

People with HS have red blood cells that are round like a ball (spherocytes) instead of the typical donut shape. These cells are more likely to break down under stress than normal red blood cells (osmotic fragility). The most common findings in people with HS are anemia, an enlarged spleen (splenomegaly), and a yellow tone to the skin or eyes (jaundice and icterus, respectively). Anemia can cause extreme tiredness (fatigue) and a pale tone of the skin (pallor). Splenomegaly can cause stomach pain. People with HS often present to care with recent or ongoing fever or infection. Other findings in people with HS are less common. These include an enlarged liver (hepatomegaly), growth failure, and allergic diseases. Some people with HS who are diagnosed in infancy may require regular blood transfusions (transfusion dependency). However, typically they grow out of transfusion dependency as they get older.

The most common problem seen in people with HS is gallstone development (cholelithiasis). Gallstones can be detected by ultrasound, which allows early diagnosis and treatment. People with HS may also have hemolytic, aplastic, and megaloblastic crises. Hemolytic crises are often triggered by viral illness and cause more destruction of red blood cells. Blood transfusions may be needed, but hemolytic crises are typically mild. Aplastic crises are less common and more severe than hemolytic crises, but are also triggered by viral illness, particularly parovirus B19. After an individual has been infected with parovirus B19, they are immune for the rest of their lives. Megaloblastic crises are caused by not having enough folate. Children, pregnant women, and people recovering from aplastic crises need more folate, so they are more susceptible. Folate supplementation can prevent megaloblastic crises.

In people with HS, the tissue that creates blood cells may grow outside of the bone marrow, where it is typically found (extramedullary hematopoiesis). There have also been reports of leg ulcers, cancers of the blood, and small cracks in a layer of the retina at the back of the eye (angioid streaks). However, these problems are not believed to be common and have only been reported in a few people with HS.

Causes

HS is caused by changes (mutations) in five different genes that code for proteins that are part of the membrane of red blood cells. These genes are ANK1, SLC4A1, SPTA1, SPTB, and EPB42. HS is inherited in an autosomal dominant manner 75% of the time and an autosomal recessive manner 25% of the time.

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We all have two copies of all our genes. One copy is passed down from mom and one is passed down from dad.

Recessive genetic disorders occur when an individual inherits an abnormal gene from each parent. If an individual receives one normal gene and one abnormal gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk for two carrier parents to both pass the abnormal gene and, therefore, have an affected child is 25% with each pregnancy. The risk to have a child who is a carrier, like the parents, is 50% with each pregnancy. The chance for a child to receive normal genes from both parents is 25%. The risk is the same for males and females.

Dominant genetic disorders occur when only a single copy of an abnormal gene is necessary to cause a particular disease. The abnormal gene can be inherited from either parent or can be the result of a mutated (changed) gene in the affected individual. The risk of passing the abnormal gene from an affected parent to an offspring is 50% for each pregnancy. The risk is the same for males and females.

Disease-causing changes in the genes associated with HS cause defects in membrane proteins of red blood cells. This reduces the surface area of the cells and leaves the cells unable to change shape under pressure. These are the rounded spherocytes. Spherocytes are trapped in the spleen. In the spleen, spherocytes are further damaged and many are destroyed. Those that escape the spleen re-enter circulation.

Affected Populations

HS affects 1 in 2,000 people in North America. It also occurs in other regions of the world, although not as well studied. No genetic changes that are more common in certain groups of people (founder mutations) have been reported. HS affects males and females equally. Age at diagnosis of HS is often between 3 – 7 years but can occur in infancy with severe disease or into adulthood with mild disease.

Related Disorders

Hereditary nonspherocytic hemolytic anemia (HNSHA) is a term used to describe a group of rare, genetically transmitted blood disorders involving destruction of red blood cells. Anemia happens when the red blood cells are destroyed faster than they are replaced. In these disorders, the outside membrane of the cell is weakened, causing it to have an irregular, non-spherical shape and to burst (hemolyze) easily. These disorders are mainly caused by defects in the chemical processes involved in the breakdown of sugar molecules (glycolysis). Red blood cells depend on this process for energy. If this process is not working, the red blood cell cannot function properly and breaks down. The more common forms of HNSHA involve glucose-6-phosphate dehydrogenase (G6PD) deficiency, pyruvate kinase deficiency and hexokinase deficiency. There may be as many as 16 red blood cell enzyme abnormalities that may cause hereditary nonspherocytic hemolytic anemia. In addition, HNSHA may arise as the result of immune disorders, toxic chemicals and drugs, antiviral agents (eg, ribavirin), physical damage, and infections. (For more information on this disorder, choose “hereditary hemolytic nonspherocytic anemia” as your search term in the Rare Disease Database.)

The autoimmune hemolytic anemias are rare disorders involving the destruction (hemolysis) of red blood cells faster than they can be replaced. Acquired hemolytic anemias are not genetic. Acquired autoimmune diseases occur when the body’s immune system attacks its own red blood cells for no known reason. Normally, the red blood cells (erythrocytes) have a life span of approximately 120 days before being removed by the spleen. The severity of this type of anemia is determined by the life span of the red blood cell and by the rate at which these cells are replaced by the bone marrow. (For more information on this disorder, choose “acquired autoimmune hemolytic anemia” as your search term in the Rare Disease Database.)

Beta thalassemia is an inherited blood disorder characterized by low levels of working hemoglobin. Hemoglobin is found in red blood cells; it is the red, iron-rich, oxygen-carrying pigment of the blood. A main function of red blood cells is to deliver oxygen throughout the body. Beta thalassemia has three main forms – minor, intermedia and major, which indicate the severity of the disease. Individuals with beta thalassemia minor usually do not have any symptoms (asymptomatic) and individuals often are unaware that they have the condition. Some individuals do experience a very mild anemia. Individuals with beta thalassemia major have a severe expression of the disorder; they often require regular blood transfusions and lifelong, ongoing medical care. The symptoms of beta thalassemia intermedia are variable and severity falls in the broad range between the two extremes of the major and minor forms. The characteristic finding of beta thalassemia is anemia, which is caused because red blood cells are abnormally small (microcytic), are not produced at the normal amounts, and do not contain enough functional hemoglobin. Consequently, affected individuals do not receive enough oxygen-rich blood (microcytic anemia) throughout the body. Affected individuals may experience classic signs of anemia including fatigue, weakness, shortness of breath, dizziness or headaches. Severe anemia can cause serious, even life-threatening complications if left untreated. Affected individuals are treated by regular blood transfusions. Because of repeated blood transfusions individuals with beta thalassemia major and intermedia may develop excess levels of iron in the body (iron overload). Iron overload can cause a variety of symptoms affecting multiple systems of the body, but can be treated with medications. Beta thalassemia is caused by mutations in the hemoglobin beta (HBB) gene. Individuals with beta thalassemia minor have a mutation in one HBB gene, while individuals with the intermediate and major forms have mutations in both HBB genes. (For more information on this disorder, choose “beta thalassemia” as your search term in the Rare Disease Database.)

Alpha thalassemia is a general term for a group of inherited blood disorders involving low levels of hemoglobin, which happens when the body is not producing enough alpha-globin, a building block of hemoglobin. Hemoglobin is found in red blood cells; it is the red, iron-rich, oxygen-carrying pigment of the blood. A main function of red blood cells is to deliver oxygen throughout the body. There are two main forms of alpha thalassemia that are associated with significant health problems – hemoglobin (Hb) Bart’s hydrops fetalis and hemoglobin H (HbH) disease. Hb Bart’s hydrops fetalis is a severe syndrome that is usually fatal to the developing embryo during gestation or shortly after birth; however, recent advances have led to improved treatments for this condition. HbH disease is highly variable, and the specific symptoms and severity can vary greatly from one person to another. Some individuals will have only minor symptoms, while others will develop potentially serious complications. The characteristic finding of all forms of alpha thalassemia is anemia, with red blood cells that are small (microcytic), contain low levels of functional hemoglobin (hypochromic), and may break down in prematurely in both the bone marrow (ineffective erythropoiesis) and in the peripheral circulation (hemolysis). Consequently, severely affected individuals may not circulate sufficient oxygen-rich blood throughout the body. These individuals may experience fatigue, weakness, shortness of breath, dizziness or headaches. Severe anemia can cause serious, even life-threatening, complications if left untreated. Individuals with severe forms of HbH disease are usually treated with regular blood transfusions, which can result in the accumulation of excess iron in the body (iron overload). Although iron overload can damage numerous organs in the body, it can be effectively treated using several highly effective medications. (For more information on this disorder, choose “alpha thalassemia” as your search term in the Rare Disease Database.)

Diagnosis

HS is first suspected based on the clinical picture. People with HS often present with one or more of the characteristic features; anemia, splenomegaly, or jaundice. Jaundice is the most common feature that develops in young infants. Other common reasons that people with HS see a specialist are anemia with an unknown cause or anemia that is resistant to iron supplementation. The family history is suggestive if there are relatives with a diagnosis of HS, any of the characteristic features, or a history of surgical removal of the spleen (splenectomy) or gallbladder (cholecystectomy).

A blood draw will be done to get a complete blood count, an immature red blood cell (reticulocyte) count, and a look at the shape of red blood cells to look for spherocytes. It is also important to rule out autoimmune hemolytic anemia. This can be done with a direct antiglobulin test. This test can tell whether destruction of red blood cells is caused by an improper immune reaction.

If the diagnosis is unclear after clinical examination and the laboratory tests described above, more laboratory tests may be needed. The eosin-5’-maleimide (EMA) binding test is the most accurate screen for HS. The EMA binding test looks for the membrane proteins involved in HS in a red blood cell sample. If these proteins are missing, the result suggests HS.

If the diagnosis of HS needs to be confirmed, analysis of red blood cell membranes can be done by gel electrophoresis. This test can tell how much the red blood cells are damaged but may not identify very mild cases.

Clinical Testing and Work-Up

The initial evaluation for HS involves a physical examination, a discussion of family history, and the laboratory tests described above on blood samples. Genetic testing is not needed to diagnose HS but can provide more information about the diagnosis and the chance that offspring will have HS. After a specific gene mutation is found in the person who is affected, at-risk family members can be tested for it.

After diagnosis, children should follow up with a physician who specializes in diseases related to blood (hematologist) annually. These visits are used to monitor overall health, growth, spleen size, exercise tolerance, and possibly folate levels. A complete blood count is not needed unless symptoms develop. Ultrasound can be done to screen for gallstones starting at age 5 and should be repeated every 3 – 5 years unless symptoms develop. Children who are severely affected should have a complete blood count done during viral illnesses. Blood transfusions should have had white blood cells removed (leucodepletion) and should be matched to the recipient’s blood type.

Adults with mild HS may not need annual visits with a hematologist. However, yearly follow-up may be helpful for those with moderate or severe disease. Adults with moderate or severe HS can receive ultrasound monitoring for gallstones. Those who have had their spleen surgically removed (splenectomy) may also require more vaccinations or preventative antibiotics. Those who have not had a splenectomy may need their fasting iron status (transferrin saturation) checked annually.

Standard Therapies

Treatment

Over the counter folate supplementation is recommended for people with moderate or severe HS and all pregnant women with HS. Supplementation is probably not needed for those with mild HS. Blood transfusions are only necessary in a few people with HS and most grow out of needing them. However, those people should receive blood that is matched to their blood type and has had the white blood cells removed.

Surgical removal of the spleen (splenectomy) essentially cures HS. However, after surgery, there is an increased risk of severe infection. Therefore, the recommendation for splenectomy differs based on severity. People with severe HS are recommended to have a splenectomy. For people with moderate disease, the decision about splenectomy should be based on the size of the spleen and the individual’s quality of life. Splenectomy is not recommended for people with mild HS. If possible, splenectomy should be delayed until age 6 or older. Minimally invasive (laparoscopic) splenectomy is recommended, as long as a trained surgeon and the correct equipment are available. Before splenectomy, the diagnosis of HS should be confirmed, since the risk of complication is higher in other conditions related to the red blood cells. After splenectomy, people are often given vaccinations and preventative antibiotics to reduce the risk of infection.

Surgical removal of part of the spleen (partial splenectomy) has been offered as an alternative to removal of the entire spleen (total splenectomy). Partial splenectomy may still reduce symptoms of HS without as much of an increase in risk of infection. Both total and partial splenectomy help normalize red blood cells, although total splenectomy appears to have a greater effect. The impact of partial splenectomy lasts at least 5 years. About 5 – 10% of people who had a partial splenectomy had symptoms develop again and 5% had a total splenectomy eventually.

Some people with HS also have surgery to remove their gallbladders (cholecystectomy). People who are having a cholecystectomy due to gallstones may also be recommended to have a splenectomy based on the severity of disease, as described above. However, in people who are having a splenectomy, cholecystectomy should only be done if there are symptomatic gallstones.

Investigational Therapies

Information on current clinical trials is posted on the Internet at https://clinicaltrials.gov/ All studies receiving U.S. Government funding, and some supported by private industry, are posted on this government web site.

For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:
Tollfree: (800) 411-1222
TTY: (866) 411-1010
Email: [emailprotected]

Some current clinical trials also are posted on the following page on the NORD website:
https://rarediseases.org/for-patients-and-families/information-resources/info-clinical-trials-and-research-studies/

For information about clinical trials sponsored by private sources, contact: http://www.centerwatch.com/

For information about clinical trials conducted in Europe, contact: https://www.clinicaltrialsregister.eu/

Supporting Organizations

  • Genetic and Rare Diseases (GARD) Information Center
  • NIH/National Heart, Lung and Blood Institute

References

JOURNAL ARTICLES
Iolascon A, Andolfo I, Barcellini W, et al. Recommendations regarding splenectomy in hereditary hemolytic anemias. Haematologica. 2017;102(8):1304-1313.

Guizzetti L. Total versus partial splenectomy in pediatric HS: A systematic review and meta-analysis. 2016;63(10):1713-1722.

Konca Ç, Söker M, Taş MA, Yıldırım R. HS: evaluation of 68 children. Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion. 2015;31(1):127-132.

Das A, Bansal D, Das R, Trehan A, Marwaha R. HS in children: Profile and post-splenectomy outcome. Indian Pediatrics. 2014;51(2):139-141.

Inati A, Noun P, Kabbara N, et al. A multicenter study on the Lebanese experience with HS. 2014;61(10):1895-1896.

Da Costa L, Galimand J, Fenneteau O, Mohandas N. HS, elliptocytosis, and other red cell membrane disorders. Blood Reviews. 2013;27(4):167-178.

Park SH, Park C-J, Lee B-R, et al. Screening For Hereditary Spherocytosis: EMA Binding Test and Flow Cytometric Osmotic Fragility Test Are Recommended, But Cryohemolysis Test Is Not Recommended. 2013;122(21):3425-3425.

Zhang R, Zhang C, Zhao Q, Li D. Spectrin: Structure, function and disease. Science China Life Sciences. 2013;56(12):1076-1085.

Bolton-Maggs PHB, Langer JC, Iolascon A, Tittensor P, King M-J. Guidelines for the diagnosis and management of HS – 2011 update. 2012;156(1):37-49.

Oliveira MCLA, Fernandes RAF, Rodrigues CL, Ribeiro DA, Giovanardi MF, Viana MB. Clinical course of 63 children with HS: a retrospective study. Revista brasileira de hematologia e hemoterapia. 2012;34(1):9-13.

Years Published

1986, 1987, 1988, 1989, 1990, 1993, 2002, 2007, 2019

The information in NORD’s Rare Disease Database is for educational purposes only and is not intended to replace the advice of a physician or other qualified medical professional.

The content of the website and databases of the National Organization for Rare Disorders (NORD) is copyrighted and may not be reproduced, copied, downloaded or disseminated, in any way, for any commercial or public purpose, without prior written authorization and approval from NORD. Individuals may print one hard copy of an individual disease for personal use, provided that content is unmodified and includes NORD’s copyright.

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FAQs

Is hereditary spherocytosis a rare disease? ›

Hereditary spherocytic anemia is a rare disorder of the surface layer (membrane) of red blood cells. It leads to red blood cells that are shaped like spheres, and premature breakdown of red blood cells (hemolytic anemia).

How long do people with hereditary spherocytosis live? ›

His red blood cells live a shorter life and the spleen becomes enlarged as it attacks the red blood cells, causing them to live a very shortened lifespan of 3-10 days. So he is anemic and fatigues easily. Although rare, it's one of the most common blood disorders for children.

How many people in the world have spherocytosis? ›

Data vary on how many people have hereditary spherocytosis. Healthcare providers estimate that 1 person in 2,000 to 5,000 people worldwide may have hereditary spherocytosis. (The 2021 global population was 7.9 billion.) Healthcare providers typically diagnose hereditary spherocytosis in infants and young children.

What percent of the population has hereditary spherocytosis? ›

Hereditary spherocytosis occurs in 1 in 2,000 individuals of Northern European ancestry. This condition is the most common cause of inherited anemia in that population. The prevalence of hereditary spherocytosis in people of other ethnic backgrounds is unknown, but it is much less common.

Is there a cure for hereditary spherocytosis? ›

Treatment for Spherocytosis

There is no simple cure for hereditary spherocytosis. Young children (up to 5 years of age) may be prescribed folic acid supplements. Blood transfusions may help with severe anemia.

Is spherocytosis an autoimmune disease? ›

Spherocytes are found in all hemolytic anemias to some degree. Hereditary spherocytosis and autoimmune hemolytic anemia are characterized by having only spherocytes.
...
Spherocytosis
SpecialtyHematology
2 more rows

Can you live a normal life with spherocytosis? ›

They have a normal life expectancy. If the spleen is removed, the red blood cells will survive for much longer and fewer transfusions are then needed. However, there is an increased risk of life-threatening infections.

Does spherocytosis make you tired? ›

Hereditary spherocytosis is a condition characterized by hemolytic anemia (when red blood cells are destroyed earlier than normal). Symptoms can range from mild to severe and may include pale skin, fatigue, anemia, jaundice, gallstones, and/or enlargement of the spleen.

Can I donate blood if I have hereditary spherocytosis? ›

1. Must not donate if: Clinically significant haemolysis.

What age spherocytosis diagnosed? ›

Age of onset varies, but often occurs between 3 – 7 years of age. Symptoms can develop in infancy, but some people with HS have no symptoms or minor symptoms and are diagnosed later in life. Suspicion for HS is based on clinical features and a family history of spherocytosis or related symptoms.

How common is spherocytosis? ›

Most of these red blood cells are destroyed within the spleen. Hereditary spherocytosis occurs in all racial and ethnic groups but is more common in northern Europeans, where it affects at least one person in 5,000.

How do you get hereditary spherocytosis? ›

Hereditary spherocytosis is an inherited blood disorder. It happens because of a problem with the red blood cells (RBCs). Instead of being shaped like a disk, the cells are round like a sphere. These red blood cells (called spherocytes) are more fragile than disk-shaped RBCs.

Why does hereditary spherocytosis cause dehydration? ›

Red blood cells (RBCs) in hereditary spherocytosis (HS) show high sodium (Na+) and potassium (K+) movement across the membrane, resulting in dehydration.

Is spherocytosis the same as sickle cell? ›

Red Blood Cell Shapes

In several hereditary disorders, red blood cells become spherical (in hereditary spherocytosis), oval (in hereditary elliptocytosis), or sickle-shaped (in sickle cell disease). In sickle cell disease, the red blood cells contain an abnormal form of hemoglobin (the protein that carries oxygen).

Does spherocytosis affect child? ›

The symptoms of spherocytosis are minor in some children. But for many children the condition is more serious. Your child may get these common symptoms of anemia: Pale skin, lips or nail beds compared to their normal color.

Can you live without a spleen? ›

The spleen is a fist-sized organ in the upper left side of your abdomen, next to your stomach and behind your left ribs. It's an important part of your immune system, but you can survive without it. This is because the liver can take over many of the spleen's functions.

Does splenectomy cure spherocytosis? ›

Treatment and Outcome

Splenectomy cures or alleviates the anemia in most patients, reducing or eliminating the need for transfusions. The risk for cholelithiasis is also decreased to nearly background levels. After splenectomy, spherocytes remain in the peripheral blood, but their life span becomes near normal.

How do you test for spherocytosis? ›

The principal laboratory studies used in the diagnosis of hereditary spherocytosis (HS) include the following:
  1. Complete blood cell count.
  2. Reticulocyte count.
  3. Mean corpuscular hemoglobin concentration (MCHC)
  4. Peripheral blood smear.
  5. Lactate dehydrogenase (LDH) level.
  6. Haptoglobin.
  7. Fractionated bilirubin.
  8. Combs testing.
18 Feb 2021

What is the most accurate test for hereditary spherocytosis? ›

The diagnosis of HS mainly relies on laboratory tests. As per the HS diagnostic protocol, medical workers rely on MRV, MSCV, MCV, and blood cell morphology examinations when patients present with one of the following clinical manifestations: anemia, jaundice, and splenomegaly.

Does hereditary spherocytosis cause iron overload? ›

Hereditary spherocytosis is a chronic hemolytic anemia that very infrequently produces severe iron overload. Only 15 cases of hereditary spherocytosis associated with hemochromatosis have been described previously.

What test is abnormal in hereditary spherocytosis? ›

The laboratory diagnosis of hereditary spherocytosis commonly relies on NaCl-based or glycerol-based red cell osmotic fragility tests; more recently, an assay directly targeting the hereditary spherocytosis molecular defect (eosin-5′-maleimide-binding test) has been proposed.

Is spherocytosis always hereditary? ›

HS is inherited in an autosomal dominant manner 75% of the time and an autosomal recessive manner 25% of the time. We all have two copies of all our genes. One copy is passed down from mom and one is passed down from dad. Recessive genetic disorders occur when an individual inherits an abnormal gene from each parent.

Can you donate blood if you have spherocytosis? ›

Individuals with known hereditary spherocytosis are permanently deferred from whole blood donation in Canada, US, and UK, likely to be generally representative elsewhere. Similar to other minor variants, donors with mild symptoms knowingly or unknowingly can donate as long as they meet general donation requirements.

What is the outcome of hereditary spherocytosis? ›

Many RBCs break down in hereditary spherocytosis, so there's more bilirubin in the body than normal. The higher level of bilirubin can lead to: yellowing of the whites of the eyes and skin, called jaundice. gallstones.

When was hereditary spherocytosis discovered? ›

Hereditary spherocytosis (HS) is a familial haemolytic disorder with marked heterogeneity. Clinical features range from asymptomatic to fulminant haemolytic anaemia. The condition was first described in 1871 (1).

What is the confirmatory test for hereditary spherocytosis? ›

The laboratory diagnosis of hereditary spherocytosis commonly relies on NaCl-based or glycerol-based red cell osmotic fragility tests; more recently, an assay directly targeting the hereditary spherocytosis molecular defect (eosin-5′-maleimide-binding test) has been proposed.

Why does hereditary spherocytosis cause dehydration? ›

Red blood cells (RBCs) in hereditary spherocytosis (HS) show high sodium (Na+) and potassium (K+) movement across the membrane, resulting in dehydration.

Can you live without a spleen? ›

The spleen is a fist-sized organ in the upper left side of your abdomen, next to your stomach and behind your left ribs. It's an important part of your immune system, but you can survive without it. This is because the liver can take over many of the spleen's functions.

Can you live a normal life with Spherocytosis? ›

They have a normal life expectancy. If the spleen is removed, the red blood cells will survive for much longer and fewer transfusions are then needed. However, there is an increased risk of life-threatening infections.

Can you donate organs with hereditary spherocytosis? ›

Inform Transplant Centre if:

Hereditary spherocytosis is a variably inherited but usually dominant condition. Suitability as a donor should be discussed with a Designated Medical Officer. The entry has been changed to be consistent with the guideline for 'Hereditary Elliptocytosis'.

Can you give blood if you have no spleen? ›

If your spleen was removed due to trauma or physical injury, you can donate six months after you've made a full recovery. If you received a blood transfusion as well, you'll need to wait 12 months after the transfusion.

What are the symptoms of hereditary spherocytosis? ›

Hereditary spherocytosis is a condition characterized by hemolytic anemia (when red blood cells are destroyed earlier than normal). Symptoms can range from mild to severe and may include pale skin, fatigue, anemia, jaundice, gallstones, and/or enlargement of the spleen.

Does spherocytosis affect child? ›

The symptoms of spherocytosis are minor in some children. But for many children the condition is more serious. Your child may get these common symptoms of anemia: Pale skin, lips or nail beds compared to their normal color.

Is spherocytosis the same as sickle cell? ›

Red Blood Cell Shapes

In several hereditary disorders, red blood cells become spherical (in hereditary spherocytosis), oval (in hereditary elliptocytosis), or sickle-shaped (in sickle cell disease). In sickle cell disease, the red blood cells contain an abnormal form of hemoglobin (the protein that carries oxygen).

What deficiency causes hereditary spherocytosis? ›

Protein 4.2 (pallidin) deficiency

Hereditary hemolytic anemia has been described in patients with a complete deficiency of protein 4.2. RBC morphology in these cases is characterized by spherocytes, elliptocytes, or sphero-ovalocytes.

Can stress cause high red blood cell count? ›

Can stress cause a high red blood cell count? Yes. Research has shown a link between stress and its effect on your blood cells. Stress can lead to an increase in red blood cells, neutrophils (a type of white blood cell) and platelets.

Why splenectomy is done in hereditary spherocytosis? ›

Hemolysis within the spleen is the main detrminant of erythrocyte destruction in patients with HS. Splenectomy removes the primary ? graveyard? for spherocytes and, thus, eliminates anemia and hyperbilirubinemia and lowers the high reticulocyte number to nearly normal levels.

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