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Children's' growth and development may be slower than normal. [1] Thalassemias are genetic disorders. [2] Alpha thalassemia is caused by deficient production of the alpha globin component of hemoglobin, while beta thalassemia is a deficiency in the beta globin component. [7]
Congenital dyserythropoietic anemia (CDA) is a rare blood disorder, similar to the thalassemias. CDA is one of many types of anemia, characterized by ineffective erythropoiesis, and resulting from a decrease in the number of red blood cells (RBCs) in the body and a less than normal quantity of hemoglobin in the blood. [21]
Chorea-acanthocytosis (ChAc)(also known as Levine-Critchley syndrome, acanthocytosis with neurologic disorder, neuroacanthocytosis, and choreoacanthocytosis) [53] is a rare hereditary disease caused by a mutation of the gene that directs structural proteins in red blood cells. It belongs to a group of four diseases characterized as ...
Congenital dyserythropoietic anemia (CDA) is a rare blood disorder, similar to the thalassemias.CDA is one of many types of anemia, characterized by ineffective erythropoiesis, and resulting from a decrease in the number of red blood cells (RBCs) in the body and a less than normal quantity of hemoglobin in the blood. [2]
Chorea-acanthocytosis (ChAc, also called choreoacanthocytosis) [1] is a rare hereditary disease--evidence suggests that only 500 to 1,000 people worldwide have the condition [2]. It is caused by a mutation in a gene that directs structural proteins in red blood cells .
An 11-year-old boy with a rare blood disorder has met the stem cell donor who saved his life when he was six. Allan McPike, 41, from Glasgow, was persuaded to sign the Anthony Nolan stem cell ...
Atypical hemolytic uremic syndrome (aHUS), also known as complement-mediated hemolytic uremic syndrome (not to be confused with hemolytic–uremic syndrome), is an extremely rare, life-threatening, progressive disease that frequently has a genetic component.
CD55 deficiency, also called DAF deficiency or CHAPLE syndrome, is a rare genetic disorder of the immune system. CHAPLE stands for "CD55 deficiency with hyper-activation of complement, angiopathic thrombosis, and severe protein-losing enteropathy (PLE)." [1] The disorder usually manifests in childhood and can be life-threatening. This condition ...
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