Homozygous Delta-Thalassemia First Discovered in Japanese Family With Hereditary Persistence of Fetal Hemoglobin
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説明
<jats:title>Abstract</jats:title> <jats:p>A family with δ-thalassemia has been discovered, in which five members are thought to be δ-thalassemia homozygotes with complete deficiency of Hb A2, and three members are probably heterozygotes with low levels of Hb A2 (1.2-1.6%). In four members among these, persistence of fetal hemoglobin of Swiss type was observed. The formal genetics of these two entities was discussed. The proposita showed first thalassemia-like stigmata with iron deficiency anemia, but after iron therapy administered over 2 months, the stigmata disappeared. All the other members of the family were free from clinical symptoms with normal morphology, MCH, and osmotic fragility of the red cells.</jats:p>
収録刊行物
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- Blood
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Blood 37 706-715, 1971-06-01
American Society of Hematology