Year : 2015 | Volume
: 29 | Issue : 1 | Page : 45--46
HbE thalassemia in pregnancy
KR Bharathi, Vanlalremsanga Varte, Y Ajitkumar Singh, BK Devi
Department of Obstetrics and Gynaecology, Regional Institute of Medical Sciences, Imphal, Manipur, India
Dr. Vanlalremsanga Varte
104, Mission Veng Bazaar, Aizawal - 796 005, Mizoram
HbE/β-Thalassemia is a rare condition which pose challenges in the management of a pregnant patient. We present a case of 27 years old primigravida who attended Obs and Gynae OPD at 27 weeks of gestation with complain of easy fatiguability, generalised weakness and breathlessness. She gave a history of similar episodes in the past and history of one unit blood transfusion at 9 years of age due to anaemia. On examination, she had severe anaemia with hepatosplenomegaly and was admitted for further evaluation and was diagnosed as a case of HbE/β-Thalassemia after doing Hb electrophoresis. She was then admitted on four occasions for blood transfusion to correct her anaemia. At 37 weeks of gestation her Hb fell to 6.9 gm/dl and she was hospitalised in antenatal ward for safe confinement and three units of blood was transfused. A total of 13 units of blood was transfused antenatally. At 38 weeks of gestation she had PROM with unfavourable cervix and labour was induced but due to non progress of labour, emergency Caesarean section under spinal anaesthesia was done. She delivered a healthy baby weighing 2.5 Kg and there was no intra/post operative complications. One unit of blood was transfused post delivery. The patient was discharged from hospital on day 7 in stable condition.
|How to cite this article:|
Bharathi K R, Varte V, Singh Y A, Devi B K. HbE thalassemia in pregnancy.J Med Soc 2015;29:45-46
|How to cite this URL:|
Bharathi K R, Varte V, Singh Y A, Devi B K. HbE thalassemia in pregnancy. J Med Soc [serial online] 2015 [cited 2020 Jan 26 ];29:45-46
Available from: http://www.jmedsoc.org/text.asp?2015/29/1/45/158935
Anemia in pregnancy is one of the most commonly associated conditions we face in our routine obstetric practice and India being a developing country, we come across iron-deficiency anemia as the most common condition, so much so that we have included prophylactic iron tablets in our national nutritional program for pregnant women, which are given to all pregnant women irrespective of their nutritional and hematological status. But through this case report we would like to share our experience, namely, that if one's patient is a pregnant lady from the northeast part of India presenting with anemia even a small clue against iron-deficiency anemia in the history, examination, or workup will help to completely diagnose the type of anemia as these people belong to the region where hemoglobin E (HbE) thalassemia is prevalent, a condition in which iron is the first drug to be avoided.
A 27-year-old primigravida attended the antenatal outpatient clinic, Department of Obstetrics and Gynecology, Regional Institute of Medical Sciences, Imphal, Manipur with 27 weeks of gestation and a history of easy fatigability, generalized weakness, and exertional breathlessness. The patient gave a history of similar complaints in the past and a history of blood transfusion at the age of 9 years and 25 years (the reports were not available). After conception, antenatal checkups were done at primary health centers and private hospitals where she was advised to take iron tablets twice daily. Examination revealed the following statistics: body weight of 44 kg, body mass index (BMI) of 19 kg/m 2 , regular pulse rate of 100/min, blood pressure of 110/70 mmHg, pallor ++, pedal edema +, and normal jugular venous pressure (JVP). Chest auscultation revealed normal S1S2 with hemic murmur and normal vesicular breath sounds. Abdominal examination revealed 26-week size uterus with regular fetal heart rate of 138/min, hepatomegaly +, and splenomegaly +. Initial work-up revealed severe anemia with Hb 6 g% and packed cell volume (PCV) 22.1%, red blood cell distribution width (RDW) 30.5%, mean corpuscular hemoglobin (MCH) 20.6 pg, mean corpuscular hemoglobin concentration (MCHC) 27.1%, and mean corpuscular volume (MCV) 76 fl; peripheral smear revealed microcytic hypochromic picture with severe anisocytosis, tear drop cells, schistocytes, target cells, and elliptocytes with few polychromatophilic forms, but no sickle cells seen. The iron profile showed raised serum ferritin (260 ng/mL) and normal total iron binding capacity. Ultrasound of the abdomen revealed the following data: hepatomegaly (16.9 cm) and splenomegaly (15 cm) with single live intrauterine fetus of 26 weeks 3 days. Hemoglobin electrophoresis revealed increased fetal hemoglobin (HbF) (55.3%) and HbE (44.7%).
With the diagnosis of HbE thalassemia, iron therapy was stopped and multiple blood transfusions were done. A total of eight units of compatible packed red blood cells (PRBCs) transfusion was given during the antenatal period before the term. The patient was admitted at 37 weeks of gestation with Hb of 6.9 g% and three pints of packed RBCs transfusion were given. She had a premature rupture of the membranes at 38 weeks of gestation with an unfavorable cervix. Emergency cesarean section was done for failed induction and the patient delivered a live term male baby weighing 2.5 kg. The intraoperative and postoperative periods were uneventful. One pint of the PRBCs was postoperatively transfused. The patient was discharged on day 7 after operation in stable condition with 9.8 g% Hb. The follow-ups at 2 weeks and 4 weeks after discharge were uneventful. She was advised review in a surgery department for splenectomy and electrophoresis of the baby after 6 months but she did not follow up.
HbE is a variant hemoglobin with a mutation in the β-globin gene, causing substitution of glutamic acid for lysine at position 26 of the β-globin chain. HbE is the second commonest abnormal hemoglobin after sickle cell hemoglobin (HbS). HbE is common in Southeast Asia where its prevalence can reach 30-40% in some parts of Thailand, Cambodia, and Laos. HbE is also found in Sri Lanka, Northeast India, Bangladesh, Pakistan, Nepal, Vietnam, and Malaysia. In the Indian scenario, apart from some sporadic appearances, HbE is exclusively confined to people originating from eastern India, especially Northeast India where the average HbE gene frequency is 10.9%.  In the literature, only seven cases of HbE/beta-thalassemia from Northeast India have been reported.  The Bodo-Kacharis (Assamese tribe) have a HbE gene frequency of 64.5%, the highest observed frequency of this mutation in the world.  HbE trait may be coinherited either in the absence of thalassemia or in cases where thalassemia may or may not be present.
Pregnancy with HbE thalassemia is associated with potential morbidity for the mother and the fetus, requiring regular antenatal care of obstetricians in collaboration with hematologists. The clinical features range from that of thalassemia minor through thalassemia intermedia to thalassemia major. Hb electrophoresis and high-performance liquid chromatography (HPLC) show the presence of HbE, hemoglobin A 2 (HbA2), and HbF in HbE/0-thalassemia and HbE, HbA, HbA2, and HbF in HbE ± thalassemia. The most severely affected individuals are transfusion dependent and have hepatosplenomegaly, jaundice, growth retardation, and overexpansion of bone marrow cavity, leading to facial deformity and defective tooth implantation. In those patients with Hb >7 g% without complications, long-term folic acid is recommended but with <7 g%, repeated blood transfusions are often required in women with thalassemia intermedia to reduce anemia and low birth weights. Many may benefit from hydroxyurea therapy that decreases ineffective erythropoiesis and reduces transfusion requirements by increasing Hb, improves the quality of life, and diminishes hemopoietic ectopic extramedullary masses. 
In conclusion, it is important to be aware of this unusual but potentially serious disorder as early diagnosis and treatment may limit the morbidity and mortality. We, as clinicians, should have a high index of suspicion for HbE thalassemia when a pregnant lady with anemia belongs to the northeast region of our country.
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