title: α-thalassemia-associated hydrops fetalis: A rare cause of thyrotoxic cardiomyopathy.
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 gonadotrophin 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 diagnosis 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.
authors.affiliation: Hematology Unit, Department of Medicine, Universiti Kebangsaan Malaysia Medical Centre, Kuala Lumpur, Malaysia.
authors.forename: Nor Rafeah
authors.initials: NR
authors.lastname: Tumian
authors.affiliation: Hematology Unit, Department of Medicine, Universiti Kebangsaan Malaysia Medical Centre, Kuala Lumpur, Malaysia.
authors.forename: Ming
authors.initials: M
authors.lastname: Wong
authors.affiliation: Hematology Unit, Department of Medicine, Universiti Kebangsaan Malaysia Medical Centre, Kuala Lumpur, Malaysia.
authors.forename: Chieh Lee
authors.initials: CL
authors.lastname: Wong
mesh_terms: D000328:Adult; D000747:Anemia, Hypochromic / Q000150:complications / Q000503:physiopathology; D009202:Cardiomyopathies / Q000150:complications* / Q000503:physiopathology; D005260:Female; D005817:Genetic Counseling; D006333:Heart Failure / Q000150:complications / Q000503:physiopathology; D006579:Heterozygote; D006801:Humans; D015160:Hydrops Fetalis / Q000000981:diagnostic imaging / Q000209:etiology*; D006980:Hyperthyroidism / Q000150:complications / Q000503:physiopathology; D008296:Malaysia; D011225:Pre-Eclampsia / Q000503:physiopathology; D011247:Pregnancy; D011248:Pregnancy Complications / Q000503:physiopathology*; D050497:Stillbirth; D013971:Thyrotoxicosis / Q000150:complications* / Q000503:physiopathology; D016216:Ultrasonography, Prenatal; D055815:Young Adult; D017085:alpha-Thalassemia / Q000196:embryology / Q000235:genetics* / Q000503:physiopathology
keywords: alpha-thalassemia; cardiac failure in pregnancy; hydrops fetalis; hyperplacentosis; hyperthyroidism