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  2. ATR-X syndrome - Wikipedia

    en.wikipedia.org/wiki/ATR-X_syndrome

    ATR-16 syndrome patients have a 1-2Mb deletion on the top of the chromosome 16 p-arm and are associated with a Mendelian inheritance of a-thalassemia. [7] ATR-X syndrome patients have no deletion in chromosome 16, a-thalassemia is rare, and this syndrome is consistent with X-linked recessive inheritance. [8]

  3. Thalassemia - Wikipedia

    en.wikipedia.org/wiki/Thalassemia

    β thalassemia major (Mediterranean anemia or Cooley anemia) is caused by a β o /β o genotype. No functional β chains are produced, and thus no hemoglobin A can be assembled. This is the most severe form of β-thalassemia. β thalassemia intermedia is caused by a β + /β o or β + /β + genotype. In this form, some hemoglobin A is produced.

  4. Hemoglobinopathy - Wikipedia

    en.wikipedia.org/wiki/Hemoglobinopathy

    Hemoglobinopathy is the medical term for a group of inherited blood disorders involving the hemoglobin, the protein of red blood cells. [1] They are generally single-gene disorders and, in most cases, they are inherited as autosomal recessive traits.

  5. Beta thalassemia - Wikipedia

    en.wikipedia.org/wiki/Beta_thalassemia

    Beta-thalassemia; Other names: Microcytemia, beta type [1] Beta thalassemia genetics, the picture shows one example of how beta thalassemia is inherited. The beta globin gene is located on chromosome 11. A child inherits two beta globin genes (one from each parent). Specialty: Hematology: Types: Thalassemia minor, intermediate and major [2] Causes

  6. Hemoglobin Barts - Wikipedia

    en.wikipedia.org/wiki/Hemoglobin_Barts

    It is also cheap and easy, making regular screening for alpha-thalassemia a plausible possibility. [ 9 ] [ 10 ] Anemia is a factor in fetuses with Hemoglobin Bart's disease as there is an "increased cardiac output" and hypovolemia as the tissues of the fetus require oxygen because of the gamma globulin's high affinity for oxygen.

  7. Alpha-thalassemia - Wikipedia

    en.wikipedia.org/wiki/Alpha-thalassemia

    Alpha-thalassemia (α-thalassemia, α-thalassaemia) is an inherited blood disorder and a form of thalassemia. Thalassemias are a group of inherited blood conditions which result in the impaired production of hemoglobin , the molecule that carries oxygen in the blood. [ 5 ]

  8. Management of thalassemia - Wikipedia

    en.wikipedia.org/wiki/Management_of_thalassemia

    If the person does not have an HLA-matched compatible donor, there is another method called bone marrow transplantation from haploidentical mother to child (mismatched donor), in which the donor is the mother. The results are these: thalassemia-free survival rate 70%, rejection 23%, and mortality 7%. The best results are with very young people ...

  9. Exagamglogene autotemcel - Wikipedia

    en.wikipedia.org/wiki/Exagamglogene_autotemcel

    The treatment was approved in the United Kingdom for the treatment of sickle cell disease and transfusion-dependent beta thalassemia in November 2023. [10] [11] [12] It was approved in the United States for the treatment of sickle cell disease in December 2023 and for the treatment of transfusion-dependent beta thalassemia in January 2024. [13 ...

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