Alpha zero- and beta zero-thalassemia in a Thai family: unusually mild homozygous beta zero-thalassemia without alpha-globin gene deletion.
Alpha-globin genes were analyzed by the direct method of DNA mapping using alpha- and zeta-globin specific probes in a Thai family in which the proposita was an unusually mild beta zero-thalassemia homozygote. alpha zero-Thalassemia was found to be segregating in the family, inherited from the proposita's father by one of her younger sisters. However, alpha zero-thalassemia was not detected by this DNA mapping in the proposita. The mild homozygous beta zero-thalassemia in this family may result from interactions of a non-deletion alpha-thalassemia, a gene responsible for high proteolytic activity permitting more balanced globin-chain levels, or from an unusually active hemoglobin F production in the proposita.
Yenchitsomanus
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Summers
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D002872:Chromosome Deletion; D004262:DNA Restriction Enzymes; D005260:Female; D005319:Fetal Hemoglobin / Q000032:analysis; D005914:Globins / Q000096:biosynthesis / Q000235:genetics*; D006443:Hemoglobin A2 / Q000032:analysis; D006720:Homozygote; D006801:Humans; D008297:Male; D013785:Thailand; D013789:Thalassemia / Q000097:blood / Q000235:genetics*
D005914:Globins; D006443:Hemoglobin A2; D005319:Fetal Hemoglobin; D004262:DNA Restriction Enzymes