Congenital Hemolytic and Dyserythropoietic Anemias
The main reason for this research study is to further understand how some red blood cells are formed incorrectly or they have an abnormal metabolism in a way that they break easier in the circulation or during their passage through the spleen. Participants and/or family members diagnosed with non-immune hemolytic anemia due to a genetic disorder, such as, hemoglobin disorder, erythrocyte membrane skeleton disorders (e.g. spherocytosis, elliptocytosis, or stomatocytosis) or hydration defect (e.g. xerocytosis, overhydrocytosis) or red blood cell (RBC) enzyme disorders, or with a congenital dyserythropoietic anemia (CDA) will be asked to participate.
• Patients who have been diagnosed, by medical history and review of the laboratory data obtained for clinical care, including CBC/reticulocyte count and review of the blood smear, with a hereditary hemolytic anemia, where the genetic etiology is challenging to be identified.
• Parents and/or grandparents of children that have the above diagnosis. The parents and/or grandparents may or may not have non-immune hemolytic anemia (these will serve as positive or negative inherent controls)