Challenge in diagnosis of hemoglobin E/beta thalassemia during pregnancy: A case report

INTRODUCTION: Beta thalassemia (β-thalassemia) in pregnant women increases the risk of obstetric problems such as premature birth and low birth weight, so caution is needed in its management; these cases are usually asymptomatic. PRESENTATION OF CASE: A pregnant Indonesian female (gestational age of 36 weeks), 21 years old, complained of general weakness. The patient experienced anemia several times during this pregnancy and received several blood transfusions. Her parents also have β-thalassemia. A physical examination of the patient showed pale conjunctiva and slight icteric sclera. Laboratory examination showed abnormal included hemoglobin (Hb) of 6.7 g/dL, hematocrit of 207 %, mean corpuscular volume (MCV) of 60.1 fL, mean corpuscular hemoglobin (MCH) of 19.3 pg, mean corpuscular hemoglobin concentration (MCHC) of 32.1 g/dL, albumin of 3.06 g/dL, direct bilirubin of 0.75 mg/dL, and total bilirubin of 1.78 mg/dL. Peripheral blood smear examination showed β-thalassemia. She received a high-calorie and protein diet with extra eggwhite of 2100 kcal/day, leukodepleted packed red blood cell (LD-PRBC) transfusion of 2 × 250 cc/day, folic acid of 3 × 1 mg/day, and methylprednisolone of 3 × 62.5 mg/day. The patient gave birth to a baby girl spontaneously. She received methylprednisolone of 3 × 16 mg with tapering off every week and folic acid of 3 × 1 mg. The patient's prognosis showed improvement. DISCUSSION: Pregnancy weakens the immune system; therefore β-thalassemia is frequently discovered during this time, and keeping the mother's Hb ≥10 g/dL prevents complications. CONCLUSION: Maintaining Hb ≥10 g/dL minimizes complications for mother and baby.