Thalassemia intermedia due to co-inheritance of beta0/beta(+)-thalassemia and (- -SEA) alpha-thalassemia/Hb Westmead [alpha122(H5)His > Gln (alpha2)] in a Chinese family.
|
| Abstract |
Two brothers from a Chinese family with beta-thalassemia intermedia who harbor both alpha- and beta-globin gene defects are described. They are both compound heterozygous for codons 41/42 (-CTTT) beta0-thalassemia and nt - 28 (A > G) beta(+)-thalassemia mutations together with concurrent (- -SEA) alpha-thalassemia (SEA) deletion. One sibling also harbors Hb Westmead, giving an unusual genotype of beta0/beta(+)-thalassemia and (- -SEA) alpha-thalassemia/Hb Westmead. With respect to the age at presentation and transfusion requirement, this subject shows a milder clinical phenotype than his brother, most probably explainable by the presence of Hb Westmead in addition to the SEA deletion, which causes a further amelioration of the alpha-chain excess and hence a less severe disease. For areas with high prevalence of both alpha- and beta-thalassemia mutations, their interactions should always be considered in genotype phenotype correlation. Moreover, routine laboratory diagnostic strategy for non-deletional alpha-globin gene mutations in the Chinese may need to include Hb Westmead, as it is a common alpha-globin gene mutation in our population apart from Hb Constant Spring and Hb Quong Sze.
|
|---|---|
| Authors | Wai-Shan Wong, Amy Y Y Chan, Sze-Fai Yip, Edmond Shiu-Kwan Ma |
| Journal | Hemoglobin (Hemoglobin) Vol. 28 Issue 2 Pg. 151-6 (May 2004) ISSN: 0363-0269 [Print] England |
| PMID | 15182058 (Publication Type: Case Reports, Journal Article) |
| Chemical References |
|
| Topics |
|
Join CureHunter, for free Research Interface BASIC access!
Realize the full power of the drug-disease research graph!