Beta-thalassemia syndromes, clinical and laboratory approach

Emine Türkkan, Su Gülsün Berrak, Cengiz Canpolat

Research output: Contribution to journalReview article

Abstract

The Beta (β) thalassemia syndromes are a heterogeneous group of genetic disorders. The frequency of thalassemia is dependent on the ethnic origins of the patient population. Turkey is located in a geographic area of the world where thalassemia syndromes are common. The incidence rate of β-thalassemia carriers was stated to be 2 per cent in Turkey. Clinical manifestations are diverse and range from asymptomatic hypochromia and microcytosis to profound anemia leading to death in early childhood if untreated. Individuals who are homozygous for the β-thalassemia genes have severe, transfusion-dependent anemia and are said to have β-thalassemia major. Thalassemia intermedia is a condition in which the degree of hemolysis is milder even though the patient may have a deficiency of both β genes. Therefore, thalassemia intermedia is essentially a descriptive term that refers to minimal or no need for transfusions. The presence of one normal gene in the heterozygotes usually leads to enough normal β-globin chain synthesis so that the affected individuals are usually asymptomatic with only a mild anemia. This condition is referred to as β-thalassemia minor or β-thalassemia trait. In this report clinical and laboratory findings of βthalassemia syndromes in childhood are reviewed.

Original languageEnglish (US)
Pages (from-to)194-200
Number of pages7
JournalMarmara Medical Journal
Volume15
Issue number3
StatePublished - Jul 1 2002

Keywords

  • Anemia
  • Beta thalassemia
  • Childhood
  • Hypocromic microcytic anemia

ASJC Scopus subject areas

  • Medicine(all)

Fingerprint Dive into the research topics of 'Beta-thalassemia syndromes, clinical and laboratory approach'. Together they form a unique fingerprint.

  • Cite this

    Türkkan, E., Berrak, S. G., & Canpolat, C. (2002). Beta-thalassemia syndromes, clinical and laboratory approach. Marmara Medical Journal, 15(3), 194-200.