Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0002895 (sickle cell disease)
 11,747 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Polymorphism encountered within the immunogenic blood group antigens is responsible for allo-immunization after transfusion or pregnancy. Antigen frequency differs depending on the ethnic background. This is the case for the Afro-caribbean population. Three levels of differences can be identified: common antigens in the RH, FY, JK and MNS blood groups, high frequency antigens in the RH, KEL, FY and MNS blood groups and low frequency antigens in the RH and KEL blood groups. When donors are primarily European caucasian in ancestry, the ethnic polymorphism may affect donor service in term of supply and demand. The effects of differences in antigen frequency are especially important when long term transfusion support is needed such as in sickle cell disease. When a Black patient is immunized against an association of common antigens for the Caucasian population (ex: anti-RH2, anti-FY1, anti-JK2, anti-MNS3) or against a high frequency antigen always present in the Caucasian population (anti-MNS5), only rare blood from the same ethnic population kept frozen at the rare blood bank can be transfused to avoid immuno-haemolytic accidents.
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PMID:[Immunohematologic characteristics in the Afro-caribbean population. Consequences for transfusion safety]. 1279 55

The erythrocyte contains a network of pathways that regulate salt and water content in the face of extracellular and intracellular osmotic perturbations. This allows the erythrocyte to maintain a narrow range of cell hemoglobin concentration, a process critical for normal red blood cell function and survival. Primary disorders that perturb volume homeostasis jeopardize the erythrocyte and may lead to its premature destruction. These disorders are marked by clinical, laboratory, and physiologic heterogeneity. Recent studies have revealed that these disorders are also marked by genetic heterogeneity. They have implicated roles for several proteins, PIEZO1, a mammalian mechanosensory protein; GLUT1, the glucose transporter; SLC4A1, the anion transporter; RhAG, the Rh-associated glycoprotein; KCNN4, the Gardos channel; and ABCB6, an adenosine triphosphate-binding cassette family member, in the maintenance of erythrocyte volume homeostasis. Secondary disorders of erythrocyte hydration include sickle cell disease, thalassemia, hemoglobin CC, and hereditary spherocytosis, where cellular dehydration may be a significant contributor to disease pathology and clinical complications. Understanding the pathways regulating erythrocyte water and solute content may reveal innovative strategies to maintain normal volume in disorders associated with primary or secondary cellular dehydration. These mechanisms will serve as a paradigm for other cells and may reveal new therapeutic targets for disease prevention and treatment beyond the erythrocyte.
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PMID:Disorders of erythrocyte hydration. 2905 Nov 81

This review presents the French strategy for blood group genotyping in high-responder and newly diagnosed sickle cell disease (SCD) patients. In addition to FY, JK, and MNS genotyping, the RH blood group system is now explored in SCD patients in France. Molecular typing has been used for the deduction of partial RH2 (C) antigens since 2010, and the gradual implementation of systematic RHD and RHCE genotyping nationwide was initiated in late 2014. In our laboratory, 962 RH:2 (C-positive) SCD patients have been tested since 2010, and 1,148 SCD patients of all RH phenotypes have been genotyped for clinically relevant alleles of RHD and RHCE since late 2014.
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PMID:Genotyping in Sickle Cell Disease Patients: The French Strategy. 3028 76