Hb Southampton [B106(G8)Leu→PRO, CTG→CCG] in a Uruguayan woman

Abstract

Hemoglobin Southampton (also known as hemoglobin Casper) is a rare hemoglobin structural variant resulting from a substitution of a leucine residue for proline at codon beta106 [beta106(G8)Leu→Pro, CTG→CCG]. It is very unstable and associated with severe hemolytic anemia. We detected this mutation in a 37-year-old Uruguayan woman with a history of severe chronic hemolytic anemia since her childhood. According to our knowledge this is the first time that this variant has been found in the Uruguayan 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.…”

“…Reported in at least seven individuals, most commonly as a de novo mutation, Hb Southampton is a rare, unstable β-globin variant [HBB:c.320T>C(p.Leu107Pro)]. [1][2][3][4][5][6][7][8] The findings in this case are suggestive of chronic intracranial ischemia. Moyamoya syndrome is a well-recognized sequela of sickle cell disease (SCD) but has also been reported in unstable hemoglobinopathies including Hb Southampton, 1,2 Hb Alesha, 10 and Hb Fairfax (in association with beta thalassemia).…”