https://imcjms.com Ibrahim Medical College Journal of Medical Science https://imcjms.com/registration/journal_full_text/51 Tue, 02 Aug 2016 10:54:45 +0000 This is a case report of a 13 years old indigenous ‘Garo’ girl who presented with purpuric spots and ecchymotic patches all over the body with menorrhagia, mild jaundice, severe anaemia, marked thrombocytopenia, moderate neutrophil leucocytosis and reticulocytosis. Investigations revealed this as a complex case of Haemoglobin E disease with immune thrombocytopenia (ITP) and combined iron, folate and vitamin B12 deficiency. The case is discussed thoroughly. Address for Correspondence: Professor Md Sirazul Islam, Department of Clinical Pathology, Clinical Biochemistry & Haematology, 122 Kazi Nazrul Islam Avenue, BIRDEM Dhaka- 1000, Email: drmsiraz@gmail.com Cases report On examination the girl was severely anaemic and mildly icteric with normal vital signs. Multiple petechiae, purpura and bruise were found. There was no lymphadenopathy, organomegally, bony tenderness or signs of meningeal irritation. All other systemic examinations revealed no abnormality. Initial blood count reports showed hemoglobin 5.7 g/dl, MCV: 66.5 fl, RDW (CV): 27.3%, total leukocyte count (WBC): 11,900/ cmm & differential count: N-76%, L-19%, M-04%, E-01%, B-00% and platelet count: 5000/cmm. Reticulocyte count was 10%. Blood film showed dimorphic picture with anisochromia and anisopoikilocytosis, some hypochromic microcytes and normochromic normocytes, a few macrocytes including macro-ovalocytes, target cells, elliptocytes, irregularly contracted cells and few fragmented cells including schistocytes and helmet cells, a few polychromatic cells and occasional nucleated red cells. WBCs were mature with mildly increased Neutrophils. Platelets were markedly decreased in number with normal morphology (Figure-1). The features were nonspecific with neutrophil leucocytosis and thrombocytopenia but possibilities to be ruled out were- Evans’s syndrome i.e., autoimmune haemolytic anemia with immune thrombocytopenia, haemoglobinopathy, microangiopathic haemolytic anaemia with disseminated intravascular coagulation and combined iron and folate / vit B12 deficiency. Bone marrow examination revealed a moderately hypercellular particulate marrow with decreased M/E ratio (about 1:2). Erythropoiesis was markedly hyperactive and mainly normoblastic with some megaloblastic features. Granulopoiesis appeared normal with maturing to segmented forms. Giant metamyelocytes were not seen. Blasts were not increased. Megakaryocytes appeared normal in number and morphology with occasional hyperpolyploid forms (Figure-2). Perls’ staining for iron revealed no stainable marrow iron. In conclusion, bone marrow revealed marked erythroid hyperplasia with some megaloblastic changes and absent stainable marrow iron, suggestive of combined iron and folate/ Vit B12 deficiency. The features were also compatible with ITP as well due to the presence of adequate number of megakaryocytes.         Hb-electrophoresis showed HbA: 28.4%, Hb E: 71.6% on 1% agarose gel at alkaline pH (8.6) suggesting a diagnosis of homozygous HbE (EE) disease. Parent’s haemoglobin electrophoresis revealed both parents as haemoglobin E traits. Serum bilirubin (total) -3.2 mg/dl, mostly indirect (3.0 mg/dl), direct and indirect coomb’s tests were negative, antinuclear antibody (ANA) screening was negative, serum calcium was normal. Our final diagnosis was haemoglobin E disease with ITP and combined iron, folate and vitamin B12 deficiency.   The case aroused lot of suspicions like haemoglobinopathy, microangiopathic haemolytic anaemia with disseminated intravascular coagulation and combined iron and folate/vit B12 deficiency due to complex peripheral blood findings. Appropriate investigations finally revealed that it was a complex case of haemoglobin E disease with ITP and co-existent combined iron, folate and vitamin B12 deficiency. ITP is a relatively common disorder and highest incidence has been considered to be in the women aged 15 -50 years. It may be acute (childhood ITP) and chronic (adult ITP). The clinical features of ITP include abrupt or gradual onset of symptoms, purpura, menorrhagia, epistaxis, gingival bleeding. ITP is the most common cause of acute onset of thrombocytopenia in otherwise healthy child. In ITP, only platelet count is decreased but haemoglobin and leukocyte counts remain almost normal unless profuse bleeding occurs. Bone marrow usually reveals increased or normal number of megakaryocytes with some young forms. In our case instead of increase in young forms occasional hyperpolyploid megakaryocytes were present. This is probably due to co-existent folate and vitamin B12 deficiency. Granulopoiesis may be normal with some degree of marrow eosinophilia. This type of co-existent entities of multiple pathologies was not reported before in Bangladesh. It may be noted that presence of multiple pathologies, sometimes opposing in nature, may co-exist in a patient. Careful blood film examination by an experienced morphologist can guide investigations to the appropriate direction thus saving much time and money. References 2.   Shashik ant C.U. Patne, Jyoti Shukla. Hb-E disorders in Eastern Uttar Pradesh. Indian Journal of Pathology and Microbiology 2009; 52(1): 110-2. 4.   Gordon-Smith EC and Marsh JCW: Acquired haemolytic anaemias. In: Hoffbrand AV, Catovsky D, Tuddenham EGD, editors. Postgraduate Haematology 5th ed. 2005, Blackwell Publishing Ltd, Oxford, UK, 151-68. 2026 Ibrahim Medical College. All rights reserved.