Hb Khartoum [β124(H2)Pro→Arg] in a Vietnamese Female

Five novel globin gene mutations identified in five Chinese families by next‐generation sequencing

“…Two internet software programs (PolyPhen-2 and SIFT) also predicted that this missense mutation might be a deleterious type, however, the heterozygous carriers of HBB:c.373C>A were asymptomatic without clinical consequences. In the HbVar database, four genotype mutations within CD124 have already been described: Hb Tunis (HBB:c.373C>T) (Koseler et al, 2010), Hb Ty Gard (HBB:c.374C>A) (Wahengbam et al, 2019), Hb Tende (HBB:c.374C>T) (Wajcman et al, 1998), and Hb Khartoum (HBB:c.374C>G) (Hendy et al, 1999). Similar to HBB:c.373C>A, all these mutations were silent βthalassemia.…”