HÆMOGLOBIN SOUTHAMPTON, β106 (G8) Leu &amp;rarr;Pro: AN UNSTABLE VARIANT PRODUCING SEVERE HÆMOLYSIS

Hyde, R. D.; Hall, M.D.; Wiltshire, B.; Lehmann, H.

doi:10.1016/s0140-6736(72)92594-9

Cited by 42 publications

(9 citation statements)

References 11 publications

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“…This hemoglobin was first reported by Hyde et al. (2) , and then was reported in seven patients including two patients in the Argentines (3-8) , all due to de novo mutations.…”

Section: Introductionmentioning

confidence: 64%

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

Pereira¹,

López²,

Costa³

et al. 2013

Revista Brasileira De Hematologia E Hemoterapia

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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.

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“…This hemoglobin was first reported by Hyde et al. (2) , and then was reported in seven patients including two patients in the Argentines (3-8) , all due to de novo mutations.…”

Section: Introductionmentioning

confidence: 64%

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

Pereira¹,

López²,

Costa³

et al. 2013

Revista Brasileira De Hematologia E Hemoterapia

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“…Hb Casper (Southampton) is the substitution of leucine 106 (G8) of the β-chain by proline, characterized as a de novo mutation in a handful of patients [3,4,5]. It consists of anemia, notable hemolysis and splenomegaly, along with recurrent infections with hemolytic crises [6], which our patient previously experienced.…”

Section: Discussionmentioning

confidence: 99%

Another Rare Unstable Hemoglobinopathy: Hemoglobin Casper/Southampton Associated with Moyamoya Disease

Haque¹,

Quint²,

Castle

et al. 2015

Cerebrovasc Dis Extra

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“…in 1973, separately described a new mutation that results in an unstable hemoglobin molecule [13,14]. The substitution of proline for leucine at beta 106 distorts the tertiary structure of hemoglobin.…”

Section: Discussionmentioning

confidence: 99%

“…The substitution of proline for leucine at beta 106 distorts the tertiary structure of hemoglobin. The unstable hemoglobin precipitates within red blood cells, shortening their lifespan and causing severe hemolysis [13]. Subsequent cases of hemoglobin Southampton (Casper) have demonstrated similar clinical findings including progressive anemia, splenomegaly, hemolytic anemia, and Heinz bodies on blood smear [15,16,17,18,19].…”

Section: Discussionmentioning

confidence: 99%

Moyamoya Syndrome Associated with Hemoglobin Southampton (Casper)

Delavari

Strahle

Maher³

2013

Pediatr Neurosurg

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When moyamoya vasculopathy results from an associated disease, this vasculopathy is then referred to as moyamoya syndrome. Moyamoya syndrome has been reported in association with sickle cell disease, neurofibromatosis type 1, Down syndrome, radiation exposure, and other predisposing factors. Other than sickle cell disease, rare hemoglobinopathies, such as hemoglobin Fairfax and hemoglobin Alesha, have been reported to occur with moyamoya. We present a case of moyamoya syndrome associated with an unstable hemoglobinopathy, hemoglobin Southampton (Casper). This is the first reported case of moyamoya associated with this hemoglobinopathy.

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HÆMOGLOBIN SOUTHAMPTON, β106 (G8) Leu →Pro: AN UNSTABLE VARIANT PRODUCING SEVERE HÆMOLYSIS

Cited by 42 publications

References 11 publications

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

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

Another Rare Unstable Hemoglobinopathy: Hemoglobin Casper/Southampton Associated with Moyamoya Disease

Moyamoya Syndrome Associated with Hemoglobin Southampton (Casper)

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