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1.
Annals of Saudi Medicine. 2003; 23 (3-4): 152-157
en Inglés | IMEMR | ID: emr-61445

RESUMEN

Little is known about hereditary spherocytosis [HS] and hereditary elliptocytosis [HE] in the native population of Saudi Arabia, even though these conditions are seemingly common. The purpose of this study was to ascertain the protein make-up of the red cell membrane in healthy Saudis and in patients with HS and HE. Patients and Eighteen healthy Saudi subjects [13 males and 5 females], 11 patients with HS [6 males and 5 females] and 11 patients with HE [7 males and 4 females] were studied. All normal controls and patients underwent SDS-PAGE red cell membrane protein analysis in duplicate and the stained protein bands were identified and quantitated by densitometry. In normal, healthy Saudis, the mean values for seven membrane proteins [alpha spectrin, spectrin, ankyrin, band 3, protein 4.1, protein 4.2, and actin] were similar to those published for normal, healthy Americans. Of the eleven cases with HS, 7 [64%] demonstrated detectable protein abnormalities while 4 [36%] were apparently normal. The electrophoretic patterns of membrane proteins in Saudis with HS differed from those of patients with HS in other parts of the world. Of the 11 cases of HE, 7 [64%] displayed abnormalities while 4 [36%] were normal. The electrophoretic pattern of the main proteins in the membranes of red blood cells in healthy Saudis is similar to that reported from the USA. However, significant differences exist in the electrophoretic patterns between Saudi patients with HS and patients from other parts of the world


Asunto(s)
Humanos , Masculino , Femenino , Proteínas de la Membrana/análisis , Esferocitosis Hereditaria , Eliptocitosis Hereditaria , Electroforesis en Gel de Poliacrilamida , Espectrina/análisis , Ancirinas/análisis , Proteína 1 de Intercambio de Anión de Eritrocito/análisis , Actinas
2.
EMJ-Emirates Medical Journal. 1995; 13 (2): 137-141
en Inglés | IMEMR | ID: emr-37347

RESUMEN

The first born female child of a consanguineous Palestinian couple suffered from a mild haemorrhagic tendency since childhood. After menarche at 11 years of age she experienced debilitating menorrhagia. It was only at 18 years of age that she was finally diagnosed to have Gray Platelet Syndrome. Subsequent to this it was discovered that three of her younger brothers also had the same syndrome. This is the first report of an Arab family with this disorder


Asunto(s)
Síndrome , Árabes
3.
Saudi Medical Journal. 1989; 10 (5): 411-414
en Inglés | IMEMR | ID: emr-14923

RESUMEN

A 20-year-old Saudi female who first presented to hospital at the age of 14 for the excision of a supernumerary thumb, was incidentally found to have pancytopenia. Clinically her diagnosis was compatible with Fanconi's anaemia, but her bone marrow was seen to be hypercellular, consistent with myelodysplastic syndrome, and contained pseudo-Gaucher cells. Cytogenetic studies, however, confirmed that she had Fanconi's anaemia and although she was initially thought to be transforming to acute non-lymphoblastic leukaemia, she has continued in a stable myelodysplastic state for a documented 2 years


Asunto(s)
Síndromes Mielodisplásicos , Médula Ósea/patología , Informes de Casos
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