نتایج جستجو برای: alpha thalassaemia

تعداد نتایج: 203579  

Journal: :Journal of Medical Genetics 1979

Journal: :Journal of medical genetics 1980
A F El-Shirbiny S Parkhurst R E Bettigole K D Tourbaf

This is a report of haemoglobin E trait in a black American family with no known Asian ancestory. The father appears to be heterozygous for both haemoglobin E and alpha-thalassaemia. The mother is normal both clinically and haematologically. These children carry Hb E trait alone. The youngest son has a normal haemoglobin pattern and appears to have alpha-thalassaemia.

Journal: :Journal of medical genetics 1993
J M White B S Christie D Nam S Daar D R Higgs

The frequencies of four malaria associated erythrocyte genetic abnormalities have been established in 1000 Omani subjects. They are: homozygous alpha+ thalassaemia (-alpha/-alpha) 0.45; high Hb A2 beta thalassaemia trait 0.015; sickle trait (Hb A/S) 0.061; and glucose 6 phosphate dehydrogenase deficiency (Gd-): males 0.27, females 0.11. From our data the alpha+ (-alpha/) thal gene (confirmed by...

Journal: :Journal of Medical Genetics 1980

2014
Sharon E. Cox Julie Makani Deogratias Soka Veline S. L'Esperence Edward Kija Paula Dominguez‐Salas Charles R. J. Newton Anthony A. Birch Andrew M. Prentice Fenella J. Kirkham

Transcranial Doppler ultrasonography measures cerebral blood flow velocity (CBFv) of basal intracranial vessels and is used clinically to detect stroke risk in children with sickle cell anaemia (SCA). Co-inheritance in SCA of alpha-thalassaemia and glucose-6-phosphate dehydrogenase (G6PD) polymorphisms is reported to associate with high CBFv and/or risk of stroke. The effect of a common functio...

Journal: :Orphanet Journal of Rare Diseases 2006
Richard Gibbons

X-linked alpha thalassaemia mental retardation (ATR-X) syndrome in males is associated with profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassaemia. Female carriers are usually physically and intellectually normal. So far, 168 patients have been reported. Language is usually very limited. Seizures occur in about one third of the cases. While many patients ...

2009
Seif Shekalaghe Michael Alifrangis Charles Mwanziva Anders Enevold Steve Mwakalinga Humphrey Mkali Reginald Kavishe Alphaxard Manjurano Robert Sauerwein Chris Drakeley Teun Bousema

BACKGROUND Low density Plasmodium falciparum infections, below the microscopic detection limit, may play an important role in maintaining malaria transmission in low endemic areas as well as contribute to the maintenance of acquired immunity. Little is known about factors influencing the occurrence of sub-microscopic parasitaemia or the relation with immune responses.We investigated possible as...

Journal: :Journal of clinical pathology 2004
C E Head M Conroy M Jarvis L Phelan B J Bain

AIMS To assess the accuracy and precision of measuring haemoglobin A(2) by high performance liquid chromatography (HPLC) in the presence and absence of sickle cell trait, with or without alpha thalassaemia trait. METHODS The haemoglobin A(2) percentage and the haemoglobin A(2) plus S percentages were determined by HPLC on 82 normal controls and 78 patients with sickle cell trait, respectively...

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