Posts Categorized: Part 19: BLOOD

Genome editing in hemoglobinopathies?

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Genome-wide association studies (GWAS) in Hemoglobinopathies have identified genes, other than the globin genes, as potential modulators of the pathology of these diseases. These potential modulators are thought to act by influencing the amounts of fetal hemoglobin (HbF). One of these genes is BCL11A. Bauer et al. characterized a common SNP in the BCL11A gene which […]

Gene therapy for Wiskott-Aldrich syndrome

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Wiskott-Aldrich syndrome (WAS) is an inherited immunodeficiency caused by mutations in the gene encoding WASP that is treated with hematopoietic stem/progenitor cell (HSPC) transplantation. Infusion of autologous HSPCs modified ex vivo by gene therapy is an alternative approach when matched donors are unavailable. Following reduced-intensity conditioning regimen, three WAS patients were infused with autologous HSPCs genetically corrected by […]

Adenovirus-Associated Virus Vector–Mediated Gene Transfer in Hemophilia B

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Nathwani et al, report in the last issue of NEJM the results of a clinical trial consisting of an Adenovirus-Associated Virus (AAV) vector–mediated gene transfer in Hemophilia B. The cohort consisted of 6 patients who received low, intermediate or high doses of the vector. AAV-mediated expression of Factor IX (FIX) at 2 to 11% of […]

Mitochondrial carrier and sideroblastic anemia

Posted by & filed under Part 10: DISORDERS OF MITOCHONDRIAL FUNCTION, Part 13: PORPHYRINS, Part 19: BLOOD, _.

Nat Genet. 2009 Jun;41(6):651-3. Epub 2009 May 3. Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia. Guernsey DL et al. These investigators form Nova Scotia describe a new form of sideroblastic anemia caused by a mutation in a mitochondrial carrier. The gene was identified by positional cloning. Click this […]

Posted by & filed under Part 19: BLOOD.

Nat Genet. 2003 Jun;34(2):157-65. Transcription of antisense RNA leading to gene silencing and methylation as a novel cause of human genetic disease. Tufarelli C, Stanley JA, Garrick D, Sharpe JA, Ayyub H, Wood WG, Higgs DR. In this article, Tufarelli and colleagues describe a new genetic mechanism of human disease, in a patient with alpha-thalassemia. […]

Rare bleeding disorder database

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The primary aim of database is to determine the distribution of each rare bleeding disorder in the world, and their available treatments. Please visit to participate in the database. For more information on rare bleeding disorders, please visit OMMBID Part 19: Chapters 169 – 183. Thank you very much in advance for your contributions […]