α-thalassemia-associated hydrops fetalis: A rare cause of thyrotoxic cardiomyopathy Nor Rafeah Tumian, Ming Wong and Chieh Lee Wong Hematology Unit, Department of Medicine, Universiti Kebangsaan Malaysia Medical Centre, Kuala Lumpur, Malaysia Abstract α°-thalassemia is a well-known cause of hydrops fetalis in South-East Asia and can be detected in utero. We report a very rare case of thyrotoxic cardiomyopathy associated with hyperplacentosis secondary to α°-thalassemia-associated hydrops fetalis. A 22-year-old primigravida with microcytic anemia presented at 27 weeks’ gestation with pre-eclampsia, hyperthyroidism and cardiac failure. Serum β-human chorionic gonado- trophin was markedly elevated and abdominal ultrasound revealed severe hydropic features and enlarged placenta. Serum β-human chorionic gonadotrophin, cardiac function and thyroid function tests normalized after she delivered a macerated stillbirth. Histopathology of the placenta showed hyperplacentosis. Blood DNA analysis revealed that both patient and husband have the α°-thalassemia trait. This case illustrates a very atypical presentation of α°-thalassemia-associated hydrops fetalis and the importance of early prenatal diag- nosis of α-thalassemia in women of relevant ethnic origin with microcytic anemia so that appropriate genetic counseling can be provided to reduce maternal morbidity and the incidence of hydrops fetalis. Key words: alpha-thalassemia, hydrops fetalis, hyperplacentosis, hyperthyroidism, cardiac failure in pregnancy. Introduction The α°-thalassemia trait is a condition commonly found in South East Asia in which both α genes are deleted from one chromosome leading to a significant reduction in α chain synthesis in the hemoglobin. 1 In cases where both parents have the α°-thalassemia trait, there is a 25% chance of the fetus developing α°-thalassemia, which is a condition generally incom- patible with life due to deletion of all four α genes and consequent total lack of α globin synthesis. α°-thalassemia is the commonest cause of hydrops fetalis in South East Asia and accounts for 60–90% of cases. 2 The fetus almost always succumbs in utero during the second or third trimester. We report a very rare initial clinical presentation of α°-thalassemia- associated hydrops fetalis. Case Report A 22-year-old primigravida was referred at 27 weeks’ gestation with 1-month history of exertional dyspnea, orthopnea, paroxysmal nocturnal dyspnea, bilateral leg swelling and occasional palpitations. There was no history or family history of cardiac or thyroid disease. She was previously well and was followed up regularly in a community health clinic. Hemoglobin level during her first antenatal visit at 11 weeks’ gestation was 8.1 g/ dL. Her blood group was B-positive. She was normo- tensive and was gaining weight proportionately prior to hospitalization. On admission, she was afebrile but hypertensive at 150/95 mmHg and tachycardic with a pulse rate of 100 b.p.m. She had clinical features consistent with cardiac failure as evidenced by an elevated jugular venous Received: July 21 2014. Accepted: October 21 2014. Reprint request to:Associate Professor Dr Chieh Lee Wong, Hematology Unit, Department of Medicine, Universiti Kebangsaan Malaysia Medical Centre, JalanYaacob Latif, 56000 Cheras, Kuala Lumpur, Malaysia. Email: chiehwong@ppukm.ukm.edu.my doi:10.1111/jog.12648 J. Obstet. Gynaecol. Res. 2014 © 2014 The Authors 1 Journal of Obstetrics and Gynaecology Research © 2014 Japan Society of Obstetrics and Gynecology