Haemoglobin D-β-thalassaemia in a German family

Summary 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-thalassaemia. The thalassaemia trait was inherited from her father and the Hb D from her mother. This is the first observation of this rate disorder in a German family. Comparable cases reported in the literature are mentioned.Abbreviations ⁺ residual-chain synthesis - ⁰ no residual-chain synthesis - Glu glutaminic acid - Glu (NH₂) or Gln glutamine - Hb Haemoglobin - MCH mean corpuscular haemoglobin - MCV mean corpuscular volume - MCHC mean corpuscular haemoglobin concentration - Lys lysine