Boy Dies from Rare Hemoglobin S and E Combination
Last month, 12-year-old Bobby Stephens, Jr. died after football practice in Florida. This week, his family learned that he carried genes for both Hemoglobin S and Hemoglobin E. There have only been 27 documented cases world-wide of people who’ve died as a result of the combination of both of these two genetic mutations.
From Brigham and Women’s Hospital:
- Hemoglobin S. This the predominant hemoglobin in people with sickle cell disease. The alpha chain is normal. The disease-producing mutation exists in the beta chain, giving the molecule the structure, a2bS2. People who have one sickle mutant gene and one normal beta gene have sickle cell trait which is benign.
- Hemoglobin E. This variant results from a mutation in the hemoglobin beta chain. People with hemoglobin E disease have a mild hemolytic anemia and mild splenomegaly. Hemoglobin E trait is benign. Hemoglobin E is extremely common in S.E. Asia and in some areas equals hemoglobin A in frequency.
Bobby had a higher probability of inheriting these specific genetic mutation from his parents because his mother is Thai and his father African-American.
St. Petersburg Times, August 22, 2006
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