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Fig. 2 | BMC Medical Genetics

Fig. 2

From: The phenomena of balanced effect between α-globin gene and of β-globin gene

Fig. 2

a. Pedigree of the family with Hb H (−α3.7/−-SEA) and βCD41–42IVS-II-654. The rightward deletion (−α3.7) was combined with codons 41–42 (-TTCT) mutations in the β-globin gene in the proband’s father (II:2), a Southeastern Asian deletion (− -SEA) was seen with IVS-II-654 (C > T) in the β-globin gene in the proband’s mother(II:3). The proband was heterozygous for Hb H (−α3.7/−-SEA) and βCD41–42IVS-II-654. b.Gap-PCR revealed a Southeast Asian deletion (− -SEA) for mother, the rightward deletion (−α3.7) for father, and Hb H disease (−-SEA/−α3.7) for the son (the proband). c. RDB for the 3 genotypes of the α2 gene point mutations (Hb CS, Hb QS and Hb WS) showed no point mutation. d. RDB assay for the 17 genotypes of the β-thalassemia point mutations

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