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Sickle cell disease (SCD), also simply called sickle cell, is a group of hemoglobin-related blood disorders that are typically inherited. [2] The most common type is known as sickle cell anemia. [2] Sickle cell anemia results in an abnormality in the oxygen-carrying protein haemoglobin found in red blood cells. [2]
Neel first found the inheritance of sickle cell anemia through its genetic basis. This was the first step to learning all of what we know genetically about sickle cell disease. He found that the sickle cell trait itself was heterozygous and the disease was expressed when the gene was recessive homozygous.
Hemoglobin D conditions such as homozygous and HbD/HbA heterozygous do not require medical intervention. HbD/HbS and HbD-thalassemia conditions are managed like the typical cases of sickle cell anemia and thalassemia. [29] In case of sickle cell anemia, daily treatment with penicillin recommended up to five years of age. [35]
Sickle cell disease; Thalassemia; Methemoglobinemia; Anemias (lack of red blood cells or hemoglobin) Iron-deficiency anemia; Megaloblastic anemia. Vitamin B 12 deficiency Pernicious anemia; Folate deficiency; Hemolytic anemias (destruction of red blood cells) Genetic disorders of RBC membrane Hereditary spherocytosis; Hereditary elliptocytosis
Autosomal dominant A 50/50 chance of inheritance. Sickle-cell disease is inherited in the autosomal recessive pattern. When both parents have sickle-cell trait (carrier), a child has a 25% chance of sickle-cell disease (red icon), 25% do not carry any sickle-cell alleles (blue icon), and 50% have the heterozygous (carrier) condition. [1]
Sickle cell disorders, which are the most prevalent form of hemoglobinopathy. Sickle hemoglobin (HbS) is prone to polymerize when deoxygenated, precipitating within the red blood cell. This damages the RBC membrane resulting in its premature destruction and consequent anemia.
The human disease sickle cell anemia is caused by a genetic mutation in the codon for the sixth amino acid of the blood protein beta-hemoglobin.The normal DNA sequence G-A-G codes for the amino acid glutamate, while the mutation changes the middle adenine to a thymine, leading to the sequence G-T-G (G-U-G in the mRNA).
Molecular medicine is a broad field, where physical, chemical, biological, bioinformatics and medical techniques are used to describe molecular structures and mechanisms, identify fundamental molecular and genetic errors of disease, and to develop molecular interventions to correct them. [1]