TABLE 6.

Summary of rare thalassemia genotypes.

Genotype	Case	Phenotype	HGVS name	Reporter
α-thalassemia
--THAI/αα	2	α0/α	NG_000006.1:g.10664_44164del33501	Fischel-Ghodsian et al. (1988)
HKαα/--SEA	4	α/α0		Wang et al. (2005)
αWSαCD74(GAC>CAC)/-α4.2	2	α+/α+	HBA1:c.223G>C
ααCD31(AGG>AAG)/--SEA	1	α+/α0	HBA2:c.95G>A	Chen et al. (2000)
β-thalassemia
βCD19(AAC>AGC)/β	1	β+/βΝ	HBB: c.59A>G	Yang et al. (1989)
β−90(C>T)/β	3	β+/βΝ	HBB: c.-140C>T	Faustino et al. (1992)
βIVS−Ⅱ−2 (−T)/β	2	β0/βΝ	HBB: c.315+2del	Ma et al. (2000)
Chinese (Aγδβ)0/β	2	Gγ(Aγδβ)0/βΝ	NG_000007.3:g.48795_127698 del78904	Jones et al. (1981)
βCD39(CAG>TAG)/β	1	β0/βΝ	HBB: c.118C>T	Orkin and Goff (1981)
βCD104(−G)/β	1	β0/βΝ	HBB: c.312delG	Lahr et al. (2007)
Total	19