Hereditary spherocytosis is a genetic disorder in which the red blood cells (RBCs) are fragile and burst easily. These disc-shaped cells, which have a lifespan of 120 days, contain hemoglobin and carry life-giving oxygen from the lungs to all tissues of the body.
Because hereditary spherocytosis weakens and destroys RBCs, this disorder can cause anemia, reducing your blood's oxygen-carrying capacity.
What Causes Hereditary Spherocytosis?
Five genetic abnormalities are believed to trigger this disorder. The abnormal genes are typically inherited from a parent, though the number of relatives affected may go back several generations.
The type of gene inheritance behind this disorder is autosomal dominant, meaning you can get the disorder from a single affected parent. Autosomal inheritance affects both men and women.
About a fourth of people with hereditary spherocytosis do not have affected parents. They have new mutations of the genes that cause the disorder.
What Are the Symptoms of Hereditary Spherocytosis?
The severity of hereditary spherocytosis symptoms varies. Those with extreme forms of this disorder have jaundice and acute anemia in childhood and require frequent blood transfusions. The very mildest forms may not be diagnosed till late adulthood.
The most common problem in hereditary spherocytosis is anemia. Large-scale destruction of RBCs causes visible jaundice. This happens because the large amount of hemoglobin released gets converted to bilirubin. Bilirubin gives a yellow tinge to the whites of the eyes.
You also may notice that your skin, tongue, and nails look pale. If your hemoglobin level falls very low, you may feel tired and lethargic all the time.
Sometimes, those with hereditary spherocytosis show no symptoms, and the disorder is diagnosed because of a gallbladder disease called cholelithiasis. Hereditary spherocytosis can also cause an enlarged liver.
Does Hereditary Spherocytosis Affect Babies?
Hereditary spherocytosis can appear at birth. The destruction of RBCs (hemolysis) in newborns can be severe and cause deep jaundice. Since this poses the risk of permanent brain damage, your doctor will advise admission to a neonatal unit for intensive treatment.
How Is Hereditary Spherocytosis Diagnosed?
If you notice you're pale and feel tired all the time, you should see your doctor. If you know of family members and relatives who have hereditary spherocytosis, letting your doctor know will help them focus their testing.
When your doctor examines you, they will notice that you're pale because of anemia. They may also find jaundice and a large spleen. You will need laboratory testing to determine whether you have hereditary spherocytosis.
If you do have this disorder, an examination of your blood under the microscope will show spherocytes and an increased number of reticulocytes. Reticulocytes are immature red blood cells, and a large percentage of these cells show your bone marrow is overactive. This usually happens in hemolytic anemia.
Other tests you may need are the osmotic fragility test, serum bilirubin levels, and genetic studies to find the abnormal gene.
What Is the Treatment for Hereditary Spherocytosis?
Treatment for this disorder depends on its severity. If you have a mild form of hereditary spherocytosis, your doctor will likely recommend regular checkups. You should keep an eye on your hemoglobin level. Sudden hemolysis can be triggered by viral infections.
Since your red blood cells are being destroyed quickly, your bone marrow has to produce extra to compensate. Your doctor will prescribe folic acid to help your bone marrow do its job.
If your hemoglobin level falls very low, your doctor may suggest a blood transfusion. Whole blood is not used now. The type of blood recommended is packed red cells.
If your hemoglobin level won’t rise, your doctor may recommend a splenectomy. Removing the spleen reduces red blood cell destruction, and you won't need as many blood transfusions. Your hemoglobin level may return to normal levels.
Removing the spleen is only done when a disorder or disease is so severe, you need frequent blood transfusions. The spleen performs many functions for you, including protection from dangerous infections. Before the surgery, your doctor will advise you to vaccinate against meningococcal and pneumococcal disease.
In recent years, doctors have performed partial splenectomy — the removal of only part of the spleen. This may provide the benefits of a splenectomy without the dangers.