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Sickle-cell disease was the genetic disorder to be linked to a mutation of a specific protein. Pauling introduced his fundamentally important concept of sickle cell anemia as a genetically transmitted molecular disease. [20] This vein (4) shows the interaction between the malaria sporozoites (6) with sickle cells (3) and regular cells (1).
The pathogen that causes the disease spends part of its cycle in the red blood cells and triggers an abnormal drop in oxygen levels in the cell. In carriers, this drop is sufficient to trigger the full sickle-cell reaction, which leads to infected cells being rapidly removed from circulation and strongly limiting the infection's progress.
Sickle cell nephropathy is a type of kidney disease associated with sickle cell disease which causes kidney complications as a result of sickling of red blood cells in the small blood vessels. The hypertonic and relatively hypoxic environment of the renal medulla , coupled with the slow blood flow in the vasa recta , favors sickling of red ...
At the time it was a scientific puzzle that the disease was prevalent even though it killed people before they reached puberty, before they can have children to pass on the lethal gene. [4] He found that the prevalence of sickle-cell trait (heterozygous condition) among people inhabiting coastal areas was higher than 20%. [8]
Stephanie was born with sickle-cell disease. At the age of 5, she participated in a clinical trial at St. Jude Children's Research Hospital, which used bone marrow transplants to treat the disease. The treatment was highly effective for her, and Dr. Keith Wagner, who led the study, considered Stephanie one of its most successful cases.
1. Tyagi S, Marwaha N, Parmar V, Basu S. Sickle cell hemoglobin-D Punjab disease (Compound Heterozygous state). Ind J Hematol Blood Transf 2000;18:31-2. 2. Zeng YT, Huang SZ, Ren ZR, Li HJ (1989). "Identification of Hb D-Punjab gene: application of DNA amplification in the study of abnormal hemoglobins". Am. J. Hum. Genet. 44 (6): 886–9. PMC ...
Autosplenectomy can occur in cases of sickle-cell disease where the misshapen cells block blood flow to the spleen, causing scarring and eventual atrophy of the organ. [2] Autosplenectomy is a rare condition that is linked to certain diseases but is not a common occurrence. It is also seen in systemic lupus erythematosus (SLE).
Splenic sequestration crisis is a life-threatening illness common in pediatric patients with homozygous sickle cell disease and beta thalassemia.Up to 30% of these children may develop splenic sequestration crisis with a mortality rate of up to 15%.