Name
PREGNANCY
DESCRIPTION
DETAIL
CAUSES : Genetic -------------------------------------------------------------------------- DIFFERENTIAL DIAGNOSIS β’ Iron deficiency β’ Other hemoglobinopathies β’ Other hemolytic anemias* PERIPHERAL BLOOD SMEAR - MICROCYTIC HYPOCHROMIC CELLS , MANY ELLIPTICAL & TEARDROP SHAPED RED CELL ARE ALSO SEEN. Anisocytosis, Hypochromia, Punctate basophilic stippling, . High percentage of target cells, Reticulocyte count elevated . Hemoglobin . Elevated Hb A2 levels in beta-thalassemia trait . Elevated Hb A2, elevated Hb F, reduced or absent Hb A1 in beta-thalassemia major or intermedia . Hematocrit . 28-40% in alpha-thalassemia trait and beta-thalassemia trait . May fall to less than 10% in beta-thalassemia major THALASSEMIA MINOR :- TARGET CELLS SEEN WITH PROFOUND MICROCYTOSIS & HYPOCHROMIA BUT MINIMAL ANEMIA SPECIAL TESTS : Bone marrow aspiration IMAGING : Skull x-ray: thickened diploΓ« of skull, osteoporosis DIAGNOSTIC PROCEDURES : Family history
TYPENOTES
AUTOSOMAL RECESSIVE DISEASE. GENETIC COUNSELING SHOULD BE DONEGENERAL MEASURES : . Mild cases require no therapy . Thalassemia intermedia - normally no therapy necessary unless hemoglobin levels fall to a dangerous level, then may need transfusion therapy . Patients with severe thalassemia : . Maintain the mean hemoglobin level of at least 9.3 g/dL (1.4 mmol/L) with a regular transfusion schedule (transfusions of about 15 mL per kg at 3-5 week intervals) . Folate supplementation . Treat infections promptly . Iron overload . Patients receiving transfusion therapy increase total body iron 4 times over the normal amount . Therapy is iron chelation SURGICAL MEASURES : . Splenectomy . May be needed if hypersplenism causes a marked increase in the transfusion requirement . Recommendation is to defer surgery until patient is 4-6 years of age (due to increased infection risk) . Administer polyvalent pneumococcal vaccine one month prior to splenectomy . Prophylaxis with a daily regimen of penicillin . Bone marrow transplantation . Available for selected patients with a matched sibling or unrelated donor . Cures the disease, but may be associated with significant mortality and morbidity ACTIVITY : . Avoid strenuous activities (e.g., football, soccer) . Acceptable activity levels will need to be determined on an individual basis depending on severity of disorder DIET : . Avoid iron-rich foods (meats such as liver, and some cereals) . Drinking tea may possibly help reduce iron DRUG(S) OF CHOICE : β’ Antibiotics for infection β’ Folic acid supplements β’ Iron chelation with deferoxamine (Desferal). Continuous subcutaneous or intravenous infusion with a small infusion pump 40 mg per kg per day (about a 10 hour period). Usually started before 5-8 years of age. PATIENT MONITORING : Life-long monitoring necessary because both the therapy and disease progression have numerous possible complications PREVENTION/AVOIDANCE : . Prenatal information . Genetic counseling . Prenatal diagnosis - study of beta globin genes performed on fetal cell DNA obtained by amniocentesis after 14 weeks . Complication prevention : . Evaluation for thalassemia by 1 year of age for offspring of adult thalassemia patients . Avoidance of infections . Prompt treatment of infections (after splenectomy, patients should maintain a supply of ampicillin to take if symptoms of infection appear) . Periodic dental checkups . Avoidance of activities that could result in bone fractures POSSIBLE COMPLICATIONS: . Chronic hemolysis . Susceptibility to infections after splenectomy . Infections from blood transfusion . Intercurrent infections . Worsening of anemia during infections . Jaundice . Leg ulcers . Cholelithiasis . Pathologic fractures . Impaired growth rate . Delayed or absent puberty . Hepatic siderosis . Hemolytic anemia . Splenomegaly . Cardiac disease from iron overload . Aplastic and megaloblastic crises EXPECTED COURSE/PROGNOSIS : β’ Outlook varies depending on type β’ Thalassemia major patients live an average of 17 years, some into their mid-twenties. Effective iron chelation is improving longevity. β’ Thalassemia minor patients live a normal life span
RELATED DISEASE
[ANEMIA] , [ANEMIA , SICKLE CELL]
Disease
Remarks
THALASSEMIA
MORE CHANCES OF PREECLAMPSIA. REQUIRE FREQUENT TANSFUSIONS & DESFERRIOXAMINE IRON CHELATION THERAPY THROUGHOUT PREGNANCY
DISEASE
INVESTIGATION
RETICULOCYTE COUNT, X-RAY SKULL A.P. & LAT. VIEW, HAEMOGLOBIN ELECTROPHORESIS ( HB A2 ), BONE MARROW ASPIRATION, COMPLETE BLOOD COUNT