Haemoglobin D-beta-thalassaemia in a German family. A double heterozygous haemoglobinopathy.
This report concerns a young woman, whose stained blood films revealed a hypochromic and microcytic red cell morphology. It could be shown by haemoglobin analysis that this atypical blood film was due to a double heterozygote disorder of haemoglobin D (Hb D) and beta-thalassaemia. The thalassaemia trait was inherited from her father and the Hb D from her mother. This is the first observation of this rare disorder in a German family. Comparable cases reported in the literature are mentioned.
D000293:Adolescent; D000328:Adult; D002648:Child; D005260:Female; D005860:Germany, West; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008875:Middle Aged; D010375:Pedigree; D013789:Thalassemia / Q000235:genetics*; D013924:Thrombophlebitis / Q000235:genetics
D006455:Hemoglobins, Abnormal; C032001:hemoglobin D