Clinical, hematological and molecular features in Thais with beta-Malay/beta-thalassemia and beta-Malay/HbE

Southeast Asian J Trop Med Public Health. 1997:28 Suppl 3:106-9.

Abstract

A total of 50 patients and relatives were studied comprising 12 cases of compound heterozygosity of beta-Malay and beta + thalassemia, 10 cases of compound heterozygosity of beta-Malay and beta degree thalassemia, 10 cases of beta-Malay and HbE and 18 cases of beta-Malay heterozygosity. Patients with beta-Malay and HbE had very mild clinical symptoms or were asymptomatic of thalassemia disease in the absence of blood transfusion. Homozygosity of beta-Malay produce mild clinical symptoms of thalassemic disease with normal facial characteristics and were not transfusion dependent. Patients with beta-Malay and IVS 1 nt 5 (G-C) had severe clinical symptoms, and were transfusion dependent. Patients with beta-Malay and beta degree thalassemia had severe clinical symptoms, delayed weight and height in relation to age, were transfusion dependent and had classical features of thalassemic diseases.

MeSH terms

  • Blood Transfusion
  • Hemoglobin E / genetics*
  • Hemoglobins, Abnormal / genetics*
  • Heterozygote
  • Homozygote
  • Humans
  • Thailand
  • beta-Thalassemia / blood
  • beta-Thalassemia / genetics*

Substances

  • Hemoglobins, Abnormal
  • hemoglobin Malay
  • Hemoglobin E