Treatment of individuals with non-tranfusion dependent Thalassemia

Because these patients are in a changing clinical state, they are to be seen by their doctor 2 - 6 times a year, depending on the severity of their thalassemia. At each visit, patients are assessed for hemoglobin level, spleen size and activity, quality of life, growth and development, nutrition, orthopedic issues, gall bladder disease, and emotional well being. Genetic counseling and family education are discussed. In addition, preventative care with vaccines, developmental testing, and assessment of school/work performance is done.

Diagnosis, Counseling and Family Planning It is important for the family to understand the significance of their mutation, as it may be helpful in predicting the future outcome. For example, Clarifying the diagnosis of Hgb H-Constant Spring from Hgb H classic is important for predicting need for transfusions and need for splenectomy. This procedure in early infancy can convert a transfusion-dependent Hgb H-Constant Spring to a transfusion-free patient. Similarly, in selected cases, Eb ⁰ thalassemia patients who undergo splenectomy may also become transfusion-free. CHO has developed a partial splenectomy approach for young children with a-thalassemia.

Growth and Development
Growth and development in children and adolescents are monitored. Endocrine evaluation for pubertal growth delay.

Transfusion Treatment The decision to begin transfusions is complex, thus all patients should be evaluated prior to the institution of transfusions. All patients receive complete phenotypically-matched blood because of the increased risk of alloimmunization. Patients requiring recurrent transfusions are closely-monitored, and if recurrent anemia is associated with significant clinical changes, such as abnormal facies, fractures, and growth retardation, a regular transfusion therapy is initiated after detailed counseling. Immunization and screening for hepatitis is undergone; splenectomy is considered.

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