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Homozygous Α-Thalassemia in a Growth Retarded, Non-Hydropic

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Homozygous Α-Thalassemia in a Growth Retarded, Non-Hydropic Journal of Perinatology (2008) 28, 158–159 r 2008 Nature Publishing Group All rights reserved. 0743-8346/08 $30 www.nature.com/jp PERINATAL/NEONATAL CASE PRESENTATION Homozygous a-thalassemia in a growth retarded, non-hydropic premature newborn YPM Ng1, R Joseph1,2 and A Biswas3,4 1Department of Neonatology, National University Hospital, Singapore; 2Department of Paediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore; 3Department of Obstetrics and Gynecology, Yong Loo Lin School of Medicine, National University of Singapore, Singapore and 4Department of Obstetrics and Gynecology, National University Hospital, Singapore infusions, 20 ml kgÀ1 normal saline, repeated infusions of 4.2% A newborn with homozygous a-thalassemia presented with intrauterine sodium bicarbonate and empiric antibiotics. growth retardation and presumed persistent pulmonary hypertension. The baby’s hemoglobin at 2 h of life was 11.8 g per 100 ml. The He also had moderate anemia, hepatomegaly and hypospadias. Correlating peripheral blood film showed anisopoikilocytosis with numerous the newborn’s clinical presentation with an underlying cause of anemia was nucleated red blood cells (1489 per 100 white blood cells), target cells helpful for early diagnosis. Prenatal blood tests must include red cell indices and Howell Jolly bodies. The cause of anemia1 and low oxygen carrying and a mean corpuscular volume value below 80 fL should prompt capacity of the blood was suspected to be a severe hemoglobinopathy thalassemia screening in an at-risk population. although his parents were not known thalassemia carriers. Journal of Perinatology (2008) 28, 158–159; doi:10.1038/sj.jp.7211873 At 5 h of life, a transfusion of 10 ml kgÀ1 packed red cells Keywords: anemia; Bart’s hydrops; homozygous a-thalassemia; improved the partial pressure of oxygen and the metabolic acidosis. À1 intrauterine growth retardation; newborn Subsequently, a partial exchange transfusion with 50 ml kg of packed cells was performed to correct anemia in the presence of heart failure. At 17 h of life, the baby developed pulmonary Case hemorrhage secondary to disseminated intravascular coagulopathy. Madam Y was a Chinese lady in her third pregnancy. At 26 h of life, the hemoglobin electrophoresis of the baby’s Her ultrasound scans at the 14th, 18th and 22nd week of blood confirmed the diagnosis of Bart’s hemoglobinopathy. Only gestation showed no structural abnormalities in the fetus. Mild Hemoglobin Bart’s, hemoglobin H and embryonic hemoglobin polyhydramnios was noted at 18 weeks. Liquor volume and fetal were present. Fetal hemoglobin and adult hemoglobin were absent. biometry parameters were normal at 22 weeks. However, at 35 Molecular genotyping revealed that the newborn was homozygous SEA weeks, she was referred for elective cesarean section as the fetus for - - a-thalassemia mutation with absence of all four had developed severe intrauterine growth retardation with a-globin genes. Both parents were confirmed carriers of the oligohydramnios. At birth, the baby was immediately intubated and --SEA deletion (Table 1). After counseling about incompatibility of ventilated. Apgar scores were 5 at 1 min and 6 at 5 min of life. He the diagnosis with long-term survival, parents agreed for was mildly pale with a large liver measuring 6 cm below the right withdrawal of therapy and the baby died shortly after. costal margin. He was not hydropic. His birth weight was 1991 g (below the third centile), which corresponded with his length and head circumference percentiles. He had penile hypospadias and Discussion bilaterally undescended testes. The placenta weighed 900 g. This is a newborn with atypical features of homozygous The baby received aggressive intervention for cardiorespiratory a-thalassemia which posed a diagnostic challenge. The baby’s support. There was clinical evidence of persistent pulmonary unstable cardiorespiratory status drew attention away from his hypertension. An arterial blood sample at 1 h of life showed severe other presenting features of anemia and hepatomegaly. The metabolic acidosis with a pH of 6.89, base excess of –22, PaO2 of absence of hydrops (peripheral edema, ascites, pleural effusions) 15 mm Hg, and PaCO2 of 54 mm Hg. Blood volume expansion was diverted us from the diagnosis of homozygous a-1 thalassemia 2,3 given. He was treated with inotropes and magnesium sulfate commonly known as Bart’s hydrops fetalis although cases of non-hydropic Bart’s have been reported.4,5 The presence of Correspondence: Dr YPM Ng, Department of Neonatology, National University Hospital, numerous nucleated red blood cells and anisopoikilocytes was 5 Lower Kent Ridge Road, Singapore 119074, Singapore. F E-mail: [email protected] suggestive of markedly abnormal hemoglobinization the Received 30 April 2007; revised 30 September 2007; accepted 9 October 2007 hallmark of thalassemia. Homozygous a-thalassemia in premature newborn YPM Ng et al 159 Table 1 Thalassemia screening results of newborn and his parents a-thalassemia mutations from unselected cord blood samples in Singaporean Chinese.15 With increasing globalization, unexpected Laboratory results Newborn Mother Father cases of homozygous a-thalassemia in people of Southeast Asian Hemoglobin (g per 100 ml) 11.8 10.5 14.0 descent may occur worldwide.5,16 Obstetricians and neonatologists MCV (fL) 109.3 68.9 69.9 worldwide thus need to be vigilant for the protean manifestations of MCH (pg) 25.1 21.7 21.7 the ‘non-hydropic’ Bart’s fetus and newborn. Surely, the HbH inclusions 3+positive Positive Positive discordance of the arterial oxygen saturation and oxygen partial Hb electrophoresis Hb Bart’s+Hb H+ HbA+Hb A2 HbA+Hb A2 pressure and the presence of hypospadias should be a ‘red flag’. & HPLC embryonic Hbs (2.7%) (2.3%) SEA SEA SEA SEA Genotype (- - /-- )(aa/- - )(aa/- - ) Acknowledgments Abbreviations: MCV, mean corpuscular volume; MCH, mean corpuscular hemoglobin. Dr Wong SC from Lab Medicine, National University Hospital, Singapore performed the thalassemia diagnostic studies on the baby and parents. There were several clues if clinical features are closely re-examined. First, the severe metabolic acidosis was unusual. References A hemoglobin concentration of 11.8 g per 100 ml is not sufficiently 1 Zaisov R, Matoth Y. Red cell values on the first postnatal day during the last 16 weeks low to produce anaerobic metabolism. Retrospectively, this was due of gestation. Am J Hematol 1976; 1: 272–278. to ineffective oxygen delivery to the cells. The ‘effective’ 2 Lie-Injo LE. Alpha-chain thalassemia and hydrops fetalis in Malaya: report of five hemoglobin consisted only of embryonic hemoglobins (10–20% of cases. Blood 1962; 5: 581–590. F the total hemoglobin concentration),6 while Hemoglobin Bart’s did 3 Tan SL, Tseng AM, Thong PW. Bart’s hydrops fetalis clinical presentation and managementFan analysis of 25 cases. Aust NZ J Obstet Gynaecol 1989; 29: not contribute to oxygen delivery to the tissues due to its high 233–237. oxygen affinity. This was reflected by the discordant PaO2 and SpO2 4 Shyur SD, Shih CC, Hung HY, Lin-Chu M, Liang DC, Lan CC et al. Non-hydropic cases values: PaO2 was only 15 mm Hg when SpO2 measured 85%. Thus, in homozygous alpha thalassemia: report of 3 cases. J Formosan Med Assoc 1987; 86: the pulse oximetry was not able to assess tissue oxygenation in the 438–441. presence of the high Hemoglobin Bart’s level and was falsely 5 Monaco SE, Davis M, Huang AC, Bhagat G, Baergen RN, Lorenz JM et al. Alpha-thalassemia major presenting in a term neonate without hydrops. Pediatr reassuring. In normal situations, pulse oximetry levels are Dev Pathol 2005; 8: 706–709. calculated by the proportion of oxyhemoglobin and 6 Weatherall DJ. The thalassaemias. BMJ 1997; 314: 1675–1678. deoxyhemoglobin of adult hemoglobin. However, as fetal 7 Thiolo EH, Curlander JB, Hay WW. Pulse oximetry. In: Brans YW and Hay WW (eds). hemoglobin has similar absorbance properties to adult Physiological Monitoring and Instrument Diagnosis in Perinatal and Neonatal hemoglobin, it does not affect these calculations.7,8 Hypospadias Medicine. Cambridge University Press: Cambridge, New York, 1995; pp 147–161. has also been previously reported in newborns with homozygous 8 Pologe JA, Raley DM. Effects of fetal hemoglobin on pulse oximetry. J Perinatol 1987; 9,10 7: 423–426. a-thalassemia. 9 Dame C, Albers N, Hasan C, Bode U, Eigel A, Hansmann M et al. Homozygous It is interesting to postulate why the mother had alpha-thalassaemia and hypospadiasFcommon etiology or incidental association? oligohydramnios instead of polyhydramnios as classically described Eur J Pediatr 1999; 158: 217–220. in pregnancies with Bart’s hydrops fetalis. In pregnant ewes, 10 Fung TY, Kin LT, Kong LC, Keung LC. Homozygous alpha-thalassemia associated with oligohydramnios may be caused by increased intramembranous hypospadias in three survivors. Am J Med Genet 2000; 95: 287–290. 11 11 Gagnon R, Harding R, Brace RA. Amniotic fluid and fetal urinary responses to severe reabsorption of amniotic fluid secondary to chronic hypoxemia. placental insufficiency in sheep. Am J Obstet Gynecol 2002; 186: 1076–1094. Madam Y fortunately did not have other associated complications, 12 Bain BJ, Amos RJ, Bareford D, Chapman C, Davies SC, Old JM, et al., for the General such as toxemia of pregnancy or post-partum hemorrhage. The Haematology Task Force of the British Committee for Standards in Haematology. pregnancy was not suspected to be at high risk for Bart’s hydrops as Guidelines on the laboratory diagnosis of haemoglobinopathies. Br J Haematol 1998; her hemoglobin was normal. Adult carriers of a-1 thalassemia 101: 783–792. mutations are not significantly anemic, confirmed by the 13 NHS Antenatal and Newborn Screening Programmes: sickle cell and thalassaemia. Handbook for Laboratories Sept 2006 (accessed online 29 October 2007 at parents’post-partum blood count results in Table 1. Thus, we http://www.sickleandthal.org.uk/Documents/Labhandbook2006.pdf).
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