When homozygous (i.e. both alleles are affected), one can be symptomatic as early as three months of age. In the first year or two of life and in the absence of transfusion, a child can demonstrate severe anemia and expansion of the facial and other bones.
Diagnosis of thalassemia major is confirmed by Hemoglobin electrophoresis with an increase in total hemoglobin, and analysis of lymphocyte DNA.
Beta thalassemia
Alpha thalassemia
Thalassemia minor
Thalassemia major
Thalassemia Symptom
The severe form of Thalassemia, Thalassemia major , occurs when a child inherits two mutated genes, one from each parent.
Thalassemia major patients require transfusions of red blood cells, every 4 to 6 weeks depending on the individual's consumption of the infused cells.
The complication that results from constant blood transfusions is iron overload, also known as secondary hemochromatosis.
Once iron is stored in the organs, it will eventually lead to organ failure and will lead to death. Iron is a component of hemoglobin, essential to the body, but once red blood cells break down the excess iron cannot be removed, resulting in the absorption of too much iron in the body.
Symptoms of Thalassemia major
Those with thalassemia major usually show symptoms within the first two years of life. They become pale and listless and have poor appetites. They grow slowly and often develop Constipation.
Without treatment, the spleen, liver and heart soon become greatly enlarged.
Bones become thin and brittle. Heart failure and infection are the leading causes of death among children with untreated thalassemia major.
Patients with thalassemia major have a much more serious illness, which requires lifelong transfusion therapy and nightly iron chelation treatments to fight iron overload from the numerous blood transfusions.
The presence of thalassemia major in both parents implies that children will likely have a form of the disease.
The prognosis of patients with thalassemia major is highly dependent on the patient's adherence to long-term treatment programs, namely the hypertransfusion program and life-long iron chelation. Allogeneic bone marrow transplantation may be curative.
Treatment for Thalassemia major
Treatment for patients with thalassemia major includes chronic transfusion therapy, iron chelation, splenectomy, and allogeneic hematopoietic transplantation.
Allogeneic hematopoietic transplantation may be curative in some patients with thalassemia major.
Blood banking considerations for these patients include completely typing their erythrocytes prior to the first transfusion. This procedure helps future crossmatching processes.
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