The homozygous state of persistent fetal hemoglobin and the interaction of persistent fetal hemoglobin with thalassemia
Wheeler, J.T.; Krevans, J.R.
Bulletin of the Johns Hopkins Hospital 109: 217-233
1961
ISSN/ISBN: 0097-1383 PMID: 14006447 Document Number: 3188
A family has been studied in which persistent fetal hemoglobin and ß chain thalassemia are present. Four individuals inherited both abnormalities (F-Thal) and demonstrated 67 to 70 per cent fetal hemoglobin and 30 to 33 per cent A hemoglobin. Their blood smears showed microcytosis, poikilocytosis, anisocytosis, and target cells, but no significant anemia was found. Another individual was homozygous for hemoglobin F (F-F) and at the age of twenty months had 100 per cent fetal hemoglobin. Although his blood smear showed marked red blood cell abnormalities, he had no significant anemia. Twenty-two individuals who are heterozygous for F hemoglobin (a-F) have been studied. They have minor morphologic erythrocyte abnormalities, but no anemia or morbidity attributable to the abnormal hemoglobin was encountered. Persistent fetal hemoglobin is inherited as an allele of the genes which affect the synthesis of the ß chain of the hemoglobin molecule. This mutation either specifically directs the synthesis of gamma chains of the hemoglobin molecule or prevents the production of normal ß and delta chains and permits compensatory synthesis of gamma chains. The differences between hereditary persistence of fetal hemoglobin and thalassemia are discussed.
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