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Sickle cell disease, in which a mutation in the globin gene causes the formation of sickle hemoglobin. [2] This disease is marked by the manifestation of chronic compensated hemolytic anemia, with laboratory findings not limited to unconjugated hyperbilirubinemia but also elevated serum lactate dehydrogenase and low serum haptoglobin. [2]
There may be signs of specific causes of anemia, e.g. koilonychia (in iron deficiency), jaundice (when anemia results from abnormal break down of red blood cells – in hemolytic anemia), nerve cell damage (vitamin B 12 deficiency), bone deformities (found in thalassemia major) or leg ulcers (seen in sickle-cell disease).
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.
A vaso-occlusive crisis is a common painful complication of sickle cell anemia in adolescents and adults. [1] [2] It is a form of sickle cell crisis.Sickle cell anemia – most common in those of African, Hispanic, and Mediterranean origin – leads to sickle cell crisis when the circulation of blood vessels is obstructed by sickled red blood cells, causing ischemic injuries.
Most individuals with G6PD deficiency are asymptomatic.When it induces hemolysis, it is usually is short-lived. [5]Most people who develop symptoms are male, due to the X-linked pattern of inheritance, but female carriers can be affected due to unfavorable lyonization or skewed X-inactivation, where random inactivation of an X-chromosome in certain cells creates a population of G6PD-deficient ...
The crisis is a common complication in sickle-cell patients and can be associated with one or more symptoms including fever, cough, excruciating pain, sputum production, shortness of breath, or low oxygen levels. [2]
Diamond–Blackfan anemia (DBA) is a congenital erythroid aplasia that usually presents in infancy. [3] DBA causes low red blood cell counts (), without substantially affecting the other blood components (the platelets and the white blood cells), which are usually normal.
Defects of red blood cell membrane production (as in hereditary spherocytosis and hereditary elliptocytosis). [2] Defects in hemoglobin production (as in thalassemia, sickle-cell disease and congenital dyserythropoietic anemia). [2] Defective red cell metabolism (as in glucose-6-phosphate dehydrogenase deficiency and pyruvate kinase deficiency ...
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