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

A retrospective study was undertaken to determine the frequency of alloimmunization in two multitransfused patient populations. Three hundred eighteen unselected patients whose transfusion records were available were studied. One hundred fifty-seven patients had sickle cell disease (SCD) and 161 had thalassemia. Forty-four antibodies were detected in 23 of the 99 transfused SCD patients. The predominate antibodies were in the Rh group: seventeen were anti-rh"(E), eight were anti-rh'(C), and four were anti-rh'w(Cw). Of the remaining antibodies, five were anti-Kell, three were anti-Jka, two were anti-Jkb, three were anti-Fya, one was anti-Bga, and one was anti-S. In the thalassemic patients, six antibodies were detected in 4 of the 39 transfused patients. Of these, there were two anti-Kell and one anti-Rho (D), anti-rh'(C), anti-rh'w(Cw), and anti-Fya each. Although the SCD patients were more likely to have been transfused at the parent institution than were the thalassemic patients (69% vs. 24%, p less than 0.05), the frequencies of alloimmunized patients, the total number of antibodies, and the number of Rh antibodies did not differ significantly (p greater than 0.05) for transfused patients in the two populations.
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PMID:Alloimmunization in two multitransfused patient populations. 726 73

GDP-dissociation inhibitors (GDIs) play a primary role in modulating the activity of GTPases. We recently reported the identification of a new GDI for the Rho-related GTPases named RhoGDIgamma. This gene is now designated ARHGDIG by HUGO. Here, in a detailed analysis of tissue expression of ARHGDIG, we observe high levels in the entire brain, with regional variations. The mRNA is also present at high levels in kidney and pancreas and at moderate levels in spinal cord, stomach, and pituitary gland. In other tissues examined, the mRNA levels are very low (lung, trachea, small intestine, colon, placenta) or undetectable. RT-PCR analysis of total RNA isolated from exocrine pancreas and islets shows that the gene is expressed in both tissues. We also report the genomic structure of ARHGDIG. The gene spans over 4 kb and is organized into six exons and five introns. The upstream region lacks a canonical TATA box and contains several putative binding sites for ubiquitous and tissue-specific factors active in central nervous system development. Using FISH, we have mapped the gene to chromosome band 16p13.3. This band is rich in deletion mutants of genes involved in several human diseases, notably polycystic kidney disease, alpha-thalassemia, tuberous sclerosis, mental retardation, and cancer. The promoter structure and the chromosomal location of RhoGDIgamma suggest its importance and underscore the need for further investigation into its biology.
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PMID:Human ARHGDIG, a GDP-dissociation inhibitor for Rho proteins: genomic structure, sequence, expression analysis, and mapping to chromosome 16p13.3. 978 82