Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0038002 (splenomegaly)
 9,873 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Haematological, clinical and some molecular genetic features of homozygous sickle cell (SS) disease in Saudi Arabia have been compared in 33 patients from the Eastern Province (Eastern) and 30 from the South Western Province (Western). Eastern patients all had the Asian beta globin haplotype whereas Western patients were more variable but predominantly of the Benin haplotype. Eastern patients had more deletional alpha thalassaemia, higher total haemoglobin and fetal haemoglobin levels, and lower HbA2, mean cell volume, reticulocytes, and platelet counts. Clinically, Eastern patients had a greater persistence of splenomegaly, a more normal body build and greater subscapular skin fold thickness, and Western patients had more dactylitis and acute chest syndrome. Painful crises and avascular necrosis of the femoral head were common and occurred equally in both groups. The disease in the Eastern province has many mild features consistent with the higher HbF levels and more frequent alpha thalassaemia but bone pathology (painful crises, avascular necrosis of the femoral head, osteomyelitis) remains common. The disease in the West is more severe consistent with the Benin haplotype suggesting an African origin.
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PMID:Two different forms of homozygous sickle cell disease occur in Saudi Arabia. 171 63

A study of 131 patients with homozygous sickle cell (SS) disease in Orissa State, India, indicated that, compared with Jamaican patients, Indian patients have higher frequencies of alpha thalassaemia, higher fetal haemoglobin, total haemoglobin, and red cell counts, and lower mean cell volume, mean cell haemoglobin concentration, and reticulocyte counts. Indian patients have a greater frequency and later peak incidence of splenomegaly, and hypersplenism is common. Painful crises and dactylitis are not uncommon in Indian patients but chronic leg ulceration is rare. Homozygous sickle cell disease in Orissa is similar to that in the Eastern Province of Saudi Arabia and is very different from that in populations of West African origin.
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PMID:Sickle cell disease in Orissa State, India. 243 Jan 54

The relationship of the clinical features of homozygous sickle cell disease in the first two years of life to the level of fetal hemoglobin at age 6 months was investigated. Mean HgbF levels were significantly lower in children manifesting early palpable splenomegaly, dactylitis, acute splenic sequestration, and in those who died. The risks of dactylitis and ASS were significantly greater in patients with lower HgbF levels. Since early splenomegaly itself may increase the risks of ASS, infection, and death, the relationship of HgbF to these features was further analyzed within the early splenomegaly group. The results suggest that a low HgbF may have a direct effect on the etiology of ASS, but any effect on infection or death is probably mediated via its relationship with the appearance of a palpable spleen. A protective effect of a high HgbF on the risk of dactylitis was demonstrated coincident with the accepted theory of its pathogenesis. Early HgbF determinations may be of value in identifying patients at high risk of serious complications during infancy.
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PMID:Fetal hemoglobin and clinical severity of homozygous sickle cell disease in early childhood. 616 Dec 41