Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019045 (hemoglobinopathies)
 2,704 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Sickle cell disease (SCD) is characterized by significant morbidity and early mortality. Children with this hemoglobinopathy exhibit many of the manifestations associated with immunodeficiency disorders. Serum was obtained from 56 healthy SCD subjects and 45 normal healthy controls. Type 2 cytokines interleukin (IL)-4, IL-6, and IL-10 serum levels were measured. Concentrations were determined by reference to a standard curve, and results were expressed in pg/mL. Results revealed significant levels of IL-4 in 6 (13%) of 45 SCD patients compared with 1 (2%) of 45 controls. Increased levels of IL-6 were present in 35 (78%) of 45 SCD patients and 12 (41%) of 29 controls. Elevated levels of IL-10 were detectable in 13 (41%) of 42 SCD patients and 1 (4%) of 25 controls. High circulating levels of type 2 cytokines may suppress both humoral and cell-mediated immune functions in SCD, with resultant increased morbidity.
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PMID:Type 2 cytokine serum levels in healthy sickle cell disease patients. 937 80

Haptoglobin (Hp) is an acute phase protein that removes free hemoglobin (Hb) released during hemolysis. Hp has also been shown to be toxic for malaria parasites. alpha(+)-Thalassemia is a hemoglobinopathy that results in subclinical hemolytic anemia. alpha(+)-Thassemia homozygosity confers protection against severe malarial disease by an as yet unidentified mechanism. Hp levels were measured in a serial cross-sectional survey of children in Madang Province, Papua New Guinea (PNG). Hp levels were related to age, Hp genotype, Hb levels, parasitemia, splenomegaly, and alpha(+)-thalassemia genotype. Surprisingly, children who were homozygous for alpha(+) -thalassemia had significantly higher levels of Hp than did heterozygotes, after controlling for relevant confounders. We suggest that this is the result of either reduced mean cell Hb associated with alpha(+) -thalassemia homozygosity or an elevated IL-6-dependent acute phase response.
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PMID:Haptoglobin levels are associated with haptoglobin genotype and alpha+ -Thalassemia in a malaria-endemic area. 1676 May 5

GVHD is a major barrier to broader use of allogenic HSCT for nonmalignancy clinical applications such as the treatment of primary immunodeficiencies and hemoglobinopathies. We show in a murine model of C57BL/6J (H2-k(b)) --> B6D2F1/J (H2-k(b/d)) acute GVHD that when initiated 2 days before transplant, the activation of the adenosine A(2A)R with the selective agonist ATL146e inhibits the weight loss and mortality associated with disease progression. Furthermore, circulating levels of proinflammatory cytokines and chemokines, including IFN-gamma, IL-6, CCL2, KC, and G-CSF, are reduced significantly by 14-day ATL146e treatment. The up-regulation of CD25, CD69, and CD40L expression by donor CD4(+) and CD8(+) T cells is inhibited by A(2A)R activation; fewer CD3(+) T cells are found in the liver, skin, and colon of ATL146e-treated mice as compared with vehicle-treated controls; and associated tissue injury is lessened. The delayed administration of ATL146e, beginning 9 days after HSCT, reverses GVHD-associated body weight loss successfully, and improvement is sustained for the duration of treatment. We conclude that the selective activation of the A(2A)R has therapeutic potential in the prevention and treatment of acute GVHD.
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PMID:Adenosine A2A receptor activation limits graft-versus-host disease after allogenic hematopoietic stem cell transplantation. 1988 28