title: Clinical, hematological and molecular features in Thais with beta-Malay/beta-thalassemia and beta-Malay/HbE.
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.
authors.affiliation: Department of Pediatrics, Faculty of Medicine, Prince of Songkla University, Hat Yai.
authors.forename: V
authors.initials: V
authors.lastname: Laosombat
authors.forename: M
authors.initials: M
authors.lastname: Wongchanchailert
authors.forename: B
authors.initials: B
authors.lastname: Sattayesevana
authors.forename: C
authors.initials: C
authors.lastname: Nopparatana
mesh_terms: 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*
chemical_list: D006455:Hemoglobins, Abnormal; C063216:hemoglobin Malay; D006446:Hemoglobin E