Haemoglobin D-β-thalassaemia in a German family |
| |
Authors: | H Piechowiak M Krause E Kohne |
| |
Institution: | (1) Medizinische Poliklinik der Universität München, Germany;(2) Hämoglobin-Labor im Zentrum für Kinderheilkunde der Universität Ulm, Germany;(3) LVA Niederbayern-Oberpfalz, Gabelsbergerstr. 7, D-8400 Regensburg, Bundesrepublik Deutschland |
| |
Abstract: | 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 |
| |
Keywords: | Haemoglobinopathy Thalassaemia Double heterozygoty |
本文献已被 SpringerLink 等数据库收录! |