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Hemoglobinopathies

The hemoglobinopathies can be divided into structural variants or thalassemia syndromes.  Structural variants, such as sickle cell, can cause tissue infarction and can be life-threatening to an infant due to increased risk of infection.  Thalassemias can cause severe anemia, failure to grow, and even death.  It is important to the infant’s health that the hemoglobinopathies be identified early so that preventive treatment can be initiated.

Screening Method:

HPLC method to identify Hemoglobin F, A, S, C, D, E, and Bart’s.

Treatment: 

Prophylactic penicillin to decrease the risk of infection for infants with Sickle Cell Anemia.  Infants with thalassemias can be managed with transfusions and medication.

Incidence:

Sickle Cell Anemia:  1:1,300 infants in the general population and 1:400 of African descent.  In West Virginia, two to three infants per year are identified with this disorder.