Hb Southampton [β106(G8)Leu→Pro; HBB: c.320T>C] and Codons 41/42 (–TTCT; HBB: c.124_127delTTCT) in a Chinese Girl

Abstract

Hb Southampton [β106(G8)Leu→Pro; 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.

Hemoglobin Southampton complicated by cerebral ischemia, moyamoya, and hydroxyurea‐induced methemoglobinemia

“…[1][2][3][4][5][6][7][8] Reticulocytes were unable to be quantified due to numerous eryth- The findings in this case are suggestive of chronic intracranial ischemia. [1][2][3][4][5][6][7][8] Reticulocytes were unable to be quantified due to numerous eryth- The findings in this case are suggestive of chronic intracranial ischemia.…”