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Haemoglobin D-β-thalassaemia in a German family

A double heterozygous haemoglobinopathy

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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) andβ-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.

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Abbreviations

β + :

residualβ-chain synthesis

β 0 :

no residualβ-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

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Authors and Affiliations

  1. Medizinische Poliklinik der Universität München, Germany

    H. Piechowiak

  2. Hämoglobin-Labor im Zentrum für Kinderheilkunde der Universität Ulm, Germany

    M. Krause & E. Kohne

  3. LVA Niederbayern-Oberpfalz, Gabelsbergerstr. 7, D-8400, Regensburg, Bundesrepublik Deutschland

    H. Piechowiak

Authors
  1. H. Piechowiak
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  2. M. Krause
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  3. E. Kohne
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Piechowiak, H., Krause, M. & Kohne, E. Haemoglobin D-β-thalassaemia in a German family. Klin Wochenschr 63, 613–615 (1985). https://doi.org/10.1007/BF01733015

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  • DOI: https://doi.org/10.1007/BF01733015

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