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.
Similar content being viewed by others
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
References
Anson MA, Mirsky AE (1930) Protein coagulation and its reversal. The preparation of insoluble globin and heme. J Gen Physiol 13:469
Baglioni C (1962) Abnormal Human Haemoglobins VIII. Chemical Studies on Haemoglobin D. Biochim Biophys Acta 590:437
Brügger E, Favre H, Waldvogel F, Boreux G, Miescher PA, Klein D, Wyss M (1979) Hemoglobin D Punjab. A propos de deux familles Schweiz. Med Wochenschr 109:1187
Cabannes R, Sendra L, Dalaut (1955) Haemoglobin D, — a hereditary haemoglobin abnormality in an Algerian Mussulman, observation of two families. Algerie Med 59:387
Clegg JB, Naughton MA, Weatherall DJ (1966) Abnormal human haemoglobin. Separation and characterization of theα- andβ-chain by chromatography, and the determination of two new variants, Hb Chesapeake and Hb-J-Bankok. J Mol Biol 19:91
Deliyannis GA, Ballas A, Christakis J (1969) Haemoglobin D in a Greek Family. Acta Haematol 41:121
Dozy AM, Kleinhauer E, Huisman THJ (1968) Studies on the heterogeneity of hemoglobin. XIII. Chromatography of various human and animal hemoglobin types on DEAE-Sephadex. J Chromatogr 32:723
Elion J, Belkhodja O, Wajcman H, Labie D (1977) Two variants of Haemoglobin D in the Algerian Population: Hemoglobin D Ouled Rabahβ 19 (B 1) Asn/Lys and Hemoglobin D Iranβ 22 (B 4) Glu/Gln. Biochim Biophys Acta 310:360
Gouttas A, Tsevrenis H, Papaspyrou A, Poungouras P, Fertakis A, Vorias N (1960) L'hemoglobinose D en Grece. Sang 31:303
Hynes M, Lehmann H (1956) Haemoglobin D in a Persian girl; presumably the first case of haemoglobin D-thalassaemia. Br Med J 2:923
Itano HA (1951) A third abnormal hemoglobin associated with hereditary hemolytic anemia. Proc Natl Acad Sci USA 37:775
Jain RC, Andleigh HS, Mehta JB (1970) Haemoglobin D-Thalassaemia. A Case Report. Acta Haematol 43:353
Kohne E, Kleihauer E (1974) Häufigkeit und Formen von anomalen Hämoglobinen und Thalassaemie-Syndromen in der deutschen Bevölkerung. Klin Wochenschr 52:1003
Kohne E, Krause M, Leupold D, Kleihauer E (1977) Hemoglobin F Koelliker (α 2 minus 141 (HC 3) Arg y2) a modification of fetal hemoglobin. Hemoglobin 1:257–266
Kohne E (1984) Eigene Beobachtung
Öszoylu S (1970) Homozygous Hemoglobin D Punjab. Acta Haematol 43:353
Rahbar S (1973) Haemoglobin D Iran:β 2 22 Glutamic Acid/Glutamine (B 4). Br J Haematol 24:31
Schneider RG, Ueda S, Alperin JB, Levin WC, Jones RT, Brimhall B (1968) Hemoglobin D Los Angeles in two Caucasian families: Hemoglobin S-D disease and hemoglobin D-thalassaemia. Blood 32:250
Stewart JN, McIver JE (1956) Sickle cell-haemoglobin D-disease in a mulatto girl. Lancet I:23
Sukumaran PK, Sanghri LD, Nazreth FA (1960) Hemoglobin D-Thalassaemia. A Report of Two Families. Acta Haematol 23:309
Tsistrakis GA, Scampardonis GJ, Clonizakis JP, Concouris LL (1975) Haemoglobin D and D-Thalassaemia. A Family Report Comprising 18 Members. Acta Haematol 54:172
Uva LS, Fernandes A, Pilar M (1983) Double heterozygotie hemoglobin D/B0 thalassemie. Nouv Rev Fr Hematol 25:387
Watson-Williams EJ, Beale D, Irvine D, Lehmann H (1965) A new haemoglobin D Ibadan (β-87 threonine/lysine) producing no sickle cells. Haemoglobin D disease with haemoglobin S. Nature 205:1273
Wong SC, Ali MAM (1980) Haemoglobin D Los Angeles, D-β +-Thalassaemia, and D-β 0-Thalassaemia. A Report of Two Canadian Families. Acta Haematol 63:151
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
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
Received:
Accepted:
Issue Date:
DOI: https://doi.org/10.1007/BF01733015