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A Chinese family has been studied in which two siblings have haemoglobin Q-H disease. Using a combination of haematological and haemoglobin analysis, globin chain synthesis, analysis of alpha/beta globin messenger RNA ratios and restriction endonuclease mapping, it has been shown that each of these siblings has received one chromosome on which both alpha chain genes have been deleted and another on which there is only a single alpha chain locus which carries the alpha Q mutation. Their genotype is thus --/-alpha Q. Despite the fact that the haemoglobin Q mutation in this family is carried on a chromosome with a single alpha chain locus, heterozygous carriers for the variant have only 25% or less haemoglobin Q. Our observations indicate that the molecular basis for haemoglobin Q-alpha thalassaemia is similar to that for the common form of haemoglobin H disease in Orientals. Furthermore, they provide clear evidence that the level of an alpha chain variant in heterozygous carriers is not a reliable reflection of the number of alpha globin genes.

Type

Journal article

Journal

Br J Haematol

Publication Date

1980

Volume

46

Pages

387 - 400

Keywords

Aged Case Report Chemistry Child DNA/blood Electrophoresis, Starch Gel Female Globins/biosynthesis Hemoglobins, Abnormal/analysis Human Male Pedigree RNA, Messenger/blood Support, Non-U.S. Gov't Thalassemia/blood/*genetics