The β-thalassaemias

An overview

Research output: Contribution to journalArticle

6 Citations (Scopus)

Abstract

β-Thalassaemia is the most common genetic disorder in Mediterranean populations. As of today, the number of mutations known to cause β-globin chains of Hb A, and 50 cause a variable decrease (Bβ+). Clinical severity is determined by the type of mutation and co-inheritance of α-thalassaemia and high Hb F production. Mild β+ mutations and increased γ chain (Hb F) production often lead to a β-thalassaemia intermedia. 'Silent β-thalassaemia' represents the mildest form of the disease, which in the simple heterozygote, is often not detectable by routine diagnostic methods. At the other end of the spectrum is the 'severe heterozygous β-thalassaemia' or 'inclusion body β-thalassaemia', characterized by highly unstable β-globin chains with altered carboxytermini, and autosomal dominant inheritance.

Original languageEnglish (US)
Pages (from-to)17-30
Number of pages14
JournalHematology Reviews and Communications
Volume6
Issue number1-3
StatePublished - Dec 1 1992

Fingerprint

Thalassemia
Globins
Mutation
Inborn Genetic Diseases
beta-Thalassemia
Inclusion Bodies
Heterozygote
Population

Keywords

  • β-thalassaemia
  • Heterozygote
  • Inclusion body β-thalassaemia
  • Thalassaemia intermedia

ASJC Scopus subject areas

  • Hematology

Cite this

The β-thalassaemias : An overview. / Kutlar, Abdullah.

In: Hematology Reviews and Communications, Vol. 6, No. 1-3, 01.12.1992, p. 17-30.

Research output: Contribution to journalArticle

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