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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 ...
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;
Hemolytic anemia or haemolytic anaemia is a form of anemia due to hemolysis, the abnormal breakdown of red blood cells (RBCs), either in the blood vessels (intravascular hemolysis) or elsewhere in the human body (extravascular). [ 2] This most commonly occurs within the spleen, but also can occur in the reticuloendothelial system or ...
The main types of thalassemia are alpha-thalassemia and beta thalassemia. [3] The two conditions may overlap because some conditions which cause abnormalities in hemoglobin proteins also affect their production. Some hemoglobin variants do not cause pathology or anemia, and thus are often not classed as hemoglobinopathies. [4] [5]
The Mentzer index, described in 1973 by William C. Mentzer, [ 1] is the MCV divided by the RBC count. It is said to be helpful in differentiating iron deficiency anemia from beta thalassemia trait. [ 2][ 3] The index is calculated from the results of a complete blood count. If the quotient of the mean corpuscular volume (MCV, in fL) divided by ...
Reticulocytopenia is the medical term for an abnormal decrease in circulating red blood cell precursors ( reticulocytes) that can lead to anemia due to resulting low red blood cell ( erythrocyte) production. [ 1] Reticulocytopenia may be an isolated finding or it may not be associated with abnormalities in other hematopoietic cell lineages such ...
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 ...