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PMID: 93489 Published · ppublish English Comparative Study Journal Article Research Support, U.S. Gov't, P.H.S.

A comparison of the homozygous states for G gamma and G gamma A gamma delta beta thalassaemia.

British journal of haematology ·Vol. 43 ·No. 4 ·1979-12-00 ·Pages 537-48

Amin AB, Pandya NL, Diwin PP, Darbre PD, Kattamis C, Metaxatou-Mavromati A, White JM, Wood WG, Clegg JB, Weatherall DJ

Abstract

One Arabic and two Indian patients with thalassaemia intermedia produce only Hb F for the G gamma type. Haemoglobin synthesis studies and genetic analysis indicate that they are homozygous for G gamma delta beta thalassaemia. The findings in these patients and their heterozygous relatives are compared with those in an individual homozygous for G gamma A gamma delta beta thalassaemia. From this analysis, and from previously reported data on G gamma A gamma delta beta thalassaemia, the phenotypic expression of the two varieties of delta beta thalassaemia is defined. The relationship between the clinical expression and molecular pathology of these forms of delta beta thalassaemia is discussed.

MeSH Terms
Adolescent Adult Alanine/blood Child Child, Preschool Female Fetal Hemoglobin/analysis Glycine/blood Hemoglobins/biosynthesis Homozygote Humans Male Thalassemia/blood,genetics
Chemicals
Hemoglobins Fetal Hemoglobin Alanine Glycine
Authors & Affiliations
10 authors, click to expand affiliations / ORCID
Amin A B
Pandya N L
Diwin P P
Darbre P D
Kattamis C
Metaxatou-Mavromati A
White J M
Wood W G
Clegg J B
Weatherall D J
Article Info
Journal
British journal of haematology
Abbr.
Br J Haematol
ISSN
0007-1048
Published
1979-12-00
Pages
537-48
Language
English
Region
England
NLM ID
0372544
Subset
IM
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