Clinical, hematological and molecular features in Thais with beta-Malay/beta-thalassemia and beta-Malay/HbE.
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.
Laosombat
V
V
Department of Pediatrics, Faculty of Medicine, Prince of Songkla University, Hat Yai.
Wongchanchailert
M
M
Sattayesevana
B
B
Nopparatana
C
C
D001803:Blood Transfusion; D006446:Hemoglobin E / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D013785:Thailand; D017086:beta-Thalassemia / Q000097:blood / Q000235:genetics*
D006455:Hemoglobins, Abnormal; C063216:hemoglobin Malay; D006446:Hemoglobin E