Hb Southampton [106(G8)LeuPro; HBB: c.320T > C] and Codons 41/42 (-TTCT; HBB: c.124_127delTTCT) in a Chinese Girl

摘要

Hb Southampton [106(G8)LeuPro; HBB: c.320T>C] is a rare, unstable hemoglobin (Hb), variant. The main clinical presentation of this variant is hemolytic anemia. We detected this mutation in a 2-year-old Chinese girl with a history of regular transfusions. To the best of our knowledge, this is the first time that this variant has been found in the Asian population.