Hemoglobinopathic Erythrocytosis due to a New Electrophoretically Silent Variant, Hemoglobin San Diego (β109(G11)Val→Met)

Hemoglobinopathic erythrocytosis due to a new electrophoretically silent variant, hemoglobin San Diego (beta109 (G11)val--met).

Examination of 13 members of a Filipino family revealed that 6 had erythrocytosis inherited as a simple autosomal dominant trait. Application of several electrophoretic and chromatographic tests failed to reveal the presence of an abnormal hemoglobin in hemolysates from affected individuals. However, measurements of oxygen dissociation curves using whole bloods, dialyzed hemolysates, and 2,3-di...

First Observation of Hemoglobin San Diego, a High Oxygen Affinity Hemoglobin Variant, in Turkey

Figure 1. A) Pedigree of the family with erythrocytosis and hemoglobin (Hb) San Diego, illustrating dominant mode of inheritance of erythrocytosis. The propositus is indicated with an arrow; B) high-performance liquid chromatography (premier Hb9210 resolution) showing the presence of Hb San Diego. Ebru Yılmaz Keskin1, Ali Fettah2, Ana Catarina Oliveira3, Şule Toprak2, Andreia Lopes3, Celeste Be...

Two independent origins of Hb Dhonburi (Neapolis) [beta 126 (H4) Val-->Gly]: an electrophoretically silent hemoglobin variant.

BACKGROUND A beta-hemoglobin variant (beta 126 (H4) Val-->Gly) was reported from Thailand and Naples (Southern Italy) as Hb Dhonburi (1) and Hb Neapolis (2), respectively. This abnormal hemoglobin, resulting from a valine to glycine substitution in the contact region between alpha and beta subunits, gives rise to instability at non-physiological conditions. However, it was difficult to distingu...

Electrospray mass spectrometry: an efficient method to detect silent hemoglobin variants causing erythrocytosis.

(15:85 by volume). F 2-iPs were eluted by washing the cartridge with 2 mL of hexane– ethyl acetate–propan-2-ol (30:65:5 by volume). For comparing the analytical performance, the samples were also purified by the method described by Nourooz-Zadeh et al. (3) using two solid-phase cartridges. F 2-iPs obtained by the purification procedures were analyzed by gas chromatography–negative ion chemical ...

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