Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0039730 (thalassemia)
 10,305 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The incidence of E hemoglobinopathies has been increasing in the United States. This is the first known case report of hemoglobin S/E in pregnancy. Management was based on the similarities of the S/E and S/beta-thalassemia hemoglobinopathies, and included partial exchange transfusion. Complications included fetal distress, congenital hydrocephalus, and cleft lip and palate. It appears that S/E and E/beta-thalassemia hemoglobinopathies may entail increased perinatal risks, but that favorable pregnancy outcomes may be anticipated with homozygous hemoglobin E or hemoglobin E trait.
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PMID:Sickle cell E hemoglobinopathy and pregnancy. 334 42

As a consequence of the high consanguinity rate among the Palestinian Arabs, many recessive disorders are present with a relatively high frequency. In a survey of 2000 different Palestinian Arab families who visited our genetic clinic, in 601 an autosomal recessive disease was diagnosed or strongly suspected. The distribution of these disorders was not uniform and some disorders, such as Krabbe disease, were found at high frequency in only a small part of the population. For some other disorders, a high prevalence was also reported among Palestinian Arabs living in other regions, for example, beta thalassaemia, Bardet-Biedl syndrome, Meckel syndrome, autosomal recessive congenital hydrocephalus, and recessive osteopetrosis. In addition, as another consequence of the high consanguinity rate, two different autosomal recessive diseases were diagnosed within the same sibship in 17 of the Palestinian Arab families.
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PMID:Autosomal recessive diseases among Palestinian Arabs. 932 66