Understanding Hereditary Hemolytic Anemias: Causes, Symptoms, and Management

What is it?

Inherited hemolytic anemia is a group of disorders in which red blood cells are destroyed faster than they are made, due to intrinsic red blood cells defect. In these disorders, one or more of the genes that control red blood cells production is not functioning properly. It can cause the cells to be fragile and break down. Common disorders are sickle cell anemia, in which the body makes abnormal hemoglobin, causing the cells to be sickle shaped. Thalassemias are a group of blood disorders in which the body is not making enough hemoglobin of a certain type. Hereditary spherocytosis the membrane of the red blood cells is ball-like, causing them to die earlier. In Glucose-6-phosphate dehydrogenase deficiency (G6PD), the red blood cell may rupture and die when contacting certain substances in the blood. In pyruvate kinase deficiency, the red blood cell is also more prone to break down.

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Additional names

This group contains additional names:
- Sickle-Cell Thalassemia With Crisis
- Hereditary Elliptocytosis
- Alpha Thalassemia
- Sickle-Cell Thalassemia
- Hereditary Spherocytosis
- Thalassemia Minor
- Delta-beta Thalassemia
- Sickle-Cell Trait
- Hemoglobin E-beta Thalassemia

Signs & symptoms

Hemolytic anemias symptoms may include paleness, jaundice, dark urine, fever, weakness, dizziness, confusion, enlarged spleen or liver, tachycardia and a heart murmur.

Diagnosis

On a blood test, complete blood count may show anemia with low levels of hemoglobin, hematocrit, and red blood cells and high reticulocyte counts as well as signs for red blood cells breakdown- decreased levels of haptoglobin and increased levels of bilirubin. On a peripheral blood smear abnormal shapes of red blood cells may be detected. Hemoglobin electrophoresis is done to evaluate the different amounts of hemoglobin types. Osmotic fragility test looks for red blood cells that are more fragile than normal. Testing the blood for G6PD deficiency is also available.Genetic testing can also help determine the exact type of anemia. Genetic testing is often done as a multigene panel, which is one test that can look for changes in multiple genes.

Treatment

Treatment for hemolytic anemia depends on many factors, and ofcourse- the underlying cause. Treatment may include blood transfusions. For severe cases, a splenectomy is sometimes performed. Also, a marrow stem cell transplant is used as a treatment.

☝️ This is not a substitute for professional medical advice. Please consult with your physician before making any medical decision.

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Source of Information - We analyze big data of more than 23 million patients de-identified medical records from the following sources:

National Institution of Health ∙ World Health Organization ∙ University of Illinois hospital