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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
In medicine, Carnett's sign is a finding on clinical examination in which ( acute) abdominal pain remains unchanged or increases when the muscles of the abdominal wall are tensed. [ 1][ 2] For this part of the abdominal examination, the patient can be asked to lift the head and shoulders from the examination table to tense the abdominal muscles.
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;
The abdominal pain is typically severe, colicky, poorly localized, and often associated with pain in back and legs. [10] [11] Patients may also present with vomiting and constipation, but diarrhea is unusual. [11] The onset of back and leg pain is characterized by severe pain and stiffness in back and thighs followed by loss of tendon reflexes ...
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]
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 ...
6947. Iron-deficiency anemia (or iron deficiency anaemia) is a common anemia that occurs when iron loss (often from intestinal bleeding or menses) occurs, and/or the dietary intake or absorption of iron is insufficient. In such a state, hemoglobin, which contains iron, cannot be formed. [ 5] Plummer–Vinson syndrome.
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 ...