Thalassemia intermedia in HbH-CS disease with compound heterozygosity for β-thalassemia: challenges in hemoglobin analysis and clinical diagnosis

• Main Authors: Tan, Mary Anne Jin Ai, Kok, Juan Loong, Tan, Kim Lian, Wee, Yong Chui, George, Elizabeth
• Format: Article
• Language: English
• Published: The Genetics Society of Japan 2009
• Online Access: http://psasir.upm.edu.my/id/eprint/17004/1/Thalassemia%20intermedia%20in%20HbH.pdf; http://psasir.upm.edu.my/id/eprint/17004/; https://www.jstage.jst.go.jp/article/ggs/84/1/84_1_67/_article

Co-inheritance of α-thalassemia with homozygosity or compound heterozygosity for β-thalassemia may ameliorate β-thalassemia major. A wide range of clinical phenotypes is produced depending on the number of α-thalassemia alleles (-α/αα --/αα, --/-α). The co-inheritance of β-thalassemia with α-thalass...