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Hemoglobin H disease is a genetic disorder resulting in absent or impaired production of the α-globin protein, a normal component of the hemoglobin. The disease occurs when the α-globin gene expression is reduced to less than 30% of the normal expression. [ 2] In a healthy individual there are four copies of the gene which encode the alpha ...
Treatment. Blood transfusion, possible splenectomy [ 1][ 4] 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]
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;
Hematology. Hemoglobinopathy is the medical term for a group of inherited blood disorders involving the hemoglobin, the protein of red blood cells. [ 1] They are single-gene disorders and, in most cases, they are inherited as autosomal co-dominant traits. [ 2]
Hemoglobin E ( HbE) is an abnormal hemoglobin with a single point mutation in the β chain. At position 26 there is a change in the amino acid, from glutamic acid to lysine (E26K). Hemoglobin E is very common among people of Southeast Asian, Northeast Indian, Sri Lankan and Bangladeshi descent. [ 1][ 2]
Transfusion-dependent anemia is a form of anemia characterized by the need for continuous blood transfusion. It is a condition that results from various diseases, and is associated with decreased survival rates. [1] [2] Regular transfusion is required to reduce the symptoms of anemia by increasing functional red blood cells and hemoglobin count ...
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 ...
ICD-10 is the 10th revision of the International Classification of Diseases (ICD), a medical classification list by the World Health Organization (WHO). It contains codes for diseases, signs and symptoms, abnormal findings, complaints, social circumstances, and external causes of injury or diseases. [ 1] Work on ICD-10 began in 1983, [ 2 ...