Homozygosity for a new type of gγaγdelta;beta;deg;thalassemia in a malaysian Male

K. Faridah, E. George, R. J. Trent, B. J. Padanilam, H. J.J. Huang, T. H.J. Huisman

Research output: Contribution to journalArticle

14 Scopus citations

Abstract

Hematological and clinical data are presented for a young Malay patient with a homozygous (δbeta;deg;thalas- semic condition. His red blood cells contained 1007% fetal hemoglobin with α and Gγ chains only. Detailed gene mapping defined a large deletion with a 5' end between the Aha III and Apa I sites, some 200-400 bp 5' to the Aγ globin gene and a 3' end beyond sequences 17-18 kb 3' to the β globin gene. This GγAγdelta;beta;deg;type of thalassemia is different from all the other six types described before. Comparison of the hematological data of this patient with those of homozygotes for either the Sicilian or Spanish types of GγAγdelta;beta;deg;thalassemia showed no differences; all homozygotes have a moderate anemia which is accentuated by the relatively high oxygen affinity of the Hb F containing erythrocytes.

Original languageEnglish (US)
Pages (from-to)353-363
Number of pages11
JournalHemoglobin
Volume10
Issue number4
DOIs
StatePublished - Jan 1 1986

ASJC Scopus subject areas

  • Hematology
  • Clinical Biochemistry
  • Genetics(clinical)
  • Biochemistry, medical

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    Faridah, K., George, E., Trent, R. J., Padanilam, B. J., Huang, H. J. J., & Huisman, T. H. J. (1986). Homozygosity for a new type of gγaγdelta;beta;deg;thalassemia in a malaysian Male. Hemoglobin, 10(4), 353-363. https://doi.org/10.3109/03630268608996867