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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
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;
Alpha-thalassemia (α-thalassemia, α-thalassaemia) is a form of thalassemia involving the genes HBA1 [5] and HBA2. [6] Thalassemias are a group of inherited blood conditions which result in the impaired production of hemoglobin , the molecule that carries oxygen in the blood. [ 7 ]
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.
Alpha-thalassemia: D56.0: 448, 33334, 33678: Alpha-thalassemia (α-thalassemia) is a form of thalassemia involving the genes HBA1 [20] and HBA2. [21] It is condition that causes a reduction of hemoglobin production. There are two types of Alpha-thalassemia, named hemoglobin Bart hydrops fetalis syndrome (also known as Hb Bart syndrome) and HbH ...
[1] [2] Regular transfusion is required to reduce the symptoms of anemia by increasing functional red blood cells and hemoglobin count. Symptoms may vary based on the severity of the condition and the most common symptom is fatigue. [3] Various diseases can lead to transfusion-dependent anemia, most notably myelodysplastic syndromes (MDS) and ...
[1] [2] The βE mutation affects β-gene expression creating an alternate splicing site in the mRNA at codons 25-27 of the β-globin gene. Through this mechanism, there is a mild deficiency in normal β mRNA and production of small amounts of anomalous β mRNA. The reduced synthesis of β chain may cause β-thalassemia.
Thalassemia can cause microcytosis. Depending upon how the terms are being defined, thalassemia can be considered a cause of microcytic anemia, or it can be considered a cause of microcytosis but not a cause of microcytic anemia. There are many causes of microcytosis, which is essentially only a descriptor.