Clinical, hematological and molecular features in Thais with beta-Malay/beta-thalassemia and beta-Malay/HbE
Laosombat, V.; Wongchanchailert, M.; Sattayesevana, B.; Nopparatana, C.
Southeast Asian Journal of Tropical Medicine and Public Health 28(Suppl 3): 106-109
1997
ISSN/ISBN: 0125-1562 PMID: 9640610 Document Number: 475158
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.