Hemoglobin h disease in two turkish females and one iranian newborn

M. Aksoy, Abdullah Kutlar, Ferdane Kutlar, T. Harano, S. S. Chen, T. H.J. Huisman

Research output: Contribution to journalArticlepeer-review

2 Scopus citations

Abstract

Recent advances in molecular biology has resulted in the characterization of different forms of αthalassemia (αthal). Deletion, or occasionally dysfunction, of one or both α globin genes, which are located on the short arm of chromosome 16 (l), will lead to an α chain deficiency with variable alterations in red cell indices. αThal-2 or αalpha;alpha; results from deletion of one of the two a globin genes, i.e. either the leftward or 4.2 kb deletion involving the α2 globin gene or the rightward or 3.7 kb deletion which involves the 3' segment of the α2 gene, the 5 ' segment of the a1 gene and intergenic DNA. αThal-1 or αalpha; results from larger deletions involving segments of DNA which contain both the α2 globin gene and (part of) the α1 globin gene. The various types are due to misalignment between two strands of DNA from two separate chromosomes during meiosis followed by an unequal crossover generating chromosomes with a single (or no) functional a globin gene or with triplicated a globin genes (2, and references quoted). Appropriate combinations of these chromosomes will lead to an αthal-2 homozygosity (αalpha; to Hb H disease (-alpha; to hydrops fetalis (- - / - -), and to genetic conditions such as those characterized by the presence of five (αalpha;alpha;alpha;alpha; four (αalpha;alpha;alpha; or three (αalpha;alpha;minus; a globin genes (2,3,4).

Original languageEnglish (US)
Pages (from-to)373-384
Number of pages12
JournalHemoglobin
Volume9
Issue number4
DOIs
StatePublished - 1985

ASJC Scopus subject areas

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

Fingerprint

Dive into the research topics of 'Hemoglobin h disease in two turkish females and one iranian newborn'. Together they form a unique fingerprint.

Cite this