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Thalassemias are inherited blood disorders that result in abnormal hemoglobin. [7] Symptoms depend on the type of thalassemia and can vary from none to severe. [1] Often there is mild to severe anemia (low red blood cells or hemoglobin) as thalassemia can affect the production of red blood cells and also affect how long the red blood cells live. [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.
The Sickle Cell Disease Association of America, Inc. (SCDAA) is a nonprofit organization with the sole purpose of supporting research, education and funding of individuals, families those who are impacted by sickle cell disease.
Roland Boyd Scott (April 18, 1909 – December 10, 2002) was an American researcher, pediatrician and authority on sickle cell disease. [1] Scott authored a key paper in 1948 describing the incidence of sickle cell in infants that eventually led to the establishment of routine screening for newborns. [1]
Hemolysis will often demonstrate poikilocytes specific to a cause or mechanism, e.g. bite cells and/or blister cells for oxidative hemolysis, acanthocytes for pyruvate kinase deficiency or McLeod phenotype, sickle cells for sickle cell anemia, spherocytes for immune-mediated hemolysis or hereditary spherocytosis, elliptocytosis for iron ...
It is possible for a person to have both the gene for hemoglobin S (the form associated with sickle cell anemia) and the gene for hemoglobin C; this state is called hemoglobin SC disease, and is generally more severe than hemoglobin C disease, but milder than sickle cell anemia.
In human, the HBB gene is located on chromosome 11 at position p15.5.. Hemoglobin subunit beta (beta globin, β-globin, haemoglobin beta, hemoglobin beta) is a globin protein, coded for by the HBB gene, which along with alpha globin (), makes up the most common form of haemoglobin in adult humans, hemoglobin A (HbA). [5]
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).