Immune haemolysis following renal transplantation has been reported and known causes include infection, medication and metabolic disturbances (1,2). Autoimmune haemolysis after renal transplantation secondary to ABO minor mismatch is an uncommon but important cause that should be considered in the differential diagnosis of post-transplantation haemolysis. A case of haemolytic anaemia caused by graft versus host antibody formation is presented. We suggest that direct Coomb's test should be done as a routine in all cases of ABO mismatch renal transplantation and red cells compatible with both donor and recipient or group "O" packed cells should be transfused if transfusion is indicated.
Idiopathic hypereosinophilic syndrome (HES) is an uncommon disorder which usually presents with prolonged and significant primary eosinophilia with end-organ dysfunction. Damaging proteins released by the eosinophilic granules are responsible for the tissues and organ system damage. Here we report two cases of idiopathic HES. Both the patients were young lady presented with high grade fever and concomitant symptoms. Laboratory findings showed leucocytosis with predominant neutrophilia and marked eosinophilia. A diagnosis of idiopathic HES was made after excluding secondary causes of eosinophilia. However, the first patient was complicated with multiple venous thrombosis and intravenous heparin was started which was later changed to subcutaneous low molecular weight heparin (LMWH). The patient developed pleural effusion and consolidation. Intravenous Tazoscin, tablet Prednisolone and tablet Hydroxyurea was started and the patient responded well. Despite treatment, two weeks later, suddenly the patient collapsed and unfortunately succumbed. On the other hand, the second patient was complicated with fever, thrombocytopenia, haemolytic anaemia, acute renal failure and neurological deficit which were part and parcel of thrombotic thrombocytopenic purpura (TTP). Plasma exchange was commenced and patient’s condition had slowly improved. Nevertheless, the hypoxia which she sustained during the multiple episodes of fits had resulted in permanent brain injury and thus requiring a tracheostomy for prolonged ventilatory support. Currently, there is no cure for HES. The main aim of treatment is to minimise the tissue damage caused by the hypereosinophilia. Early diagnosis and intervention are therefore crucial in preventing the spread of the disease and the end-organ damage.
Hereditary stomatocytic ovalocytosis and haemoglobin E are two genes present in 3-5% of Malays. This is a report of a 22 year old Malay college student with homozygous haemoglobin E and hereditary stomatocytic ovalocytosis where the clinical effects seen were the result of the summation of these genes: he was asymptomatic, presenting with moderate jaundice, moderate hepatosplenomegaly, and a mild haemolytic anaemia.
Familial distal renal tubular acidosis (dRTA) can be caused by mutations in the Cl2/HCO32 exchanger of the renal Type A intercalated cell, kidney AE1/SLC4A1. dRTA-associated AE1 mutations have been reported in families from North America, Europe, Thailand, Malaysia, Papua-New Guinea, Taiwan, and the Philippines, but not India. The dRTA mutation AE1 A858D has been detected only in the context of compound heterozygosity. We report here two unrelated Indian patients with combined hemolytic anemia and dRTA who share homozygous A858D mutations of the AE1/SLC4A1 gene. The mutation creates a novel restriction site that is validated for diagnostic screening.
We reported a case of a woman with no past medical illness who presented with a few days' history of fever, myalgia, arthralgia, hypochromic microcytic anaemia and thrombocytopaenia and who was nonstructural protein 1 antigen (NS1Ag)-positive. Haemolytic anaemia including full blood picture work-up revealed high reticulocyte count and haemolysis with positive direct Coombs test. She was started on prednisolone and was discharged well.
A 2-year-old Chinese boy was referred to Hospital UKM for investigation of recurrent episodes of dark-coloured urine and pallor since birth. He was born prematurely at 34 weeks gestation and developed severe early-onset neonatal jaundice requiring exchange blood transfusion. Screening at birth showed Glucose-6-phosphate dehydrogenase (G6PD) deficiency. On admission, physical examination revealed pallor, jaundice and mild hepatomegaly. Results of laboratory investigations showed a hemoglobin level of 11.0 g/dl with a hemolytic blood picture, reticulocytosis of 20% and red cell G6PD activity reported as undetectable. The patient's DNA was analysed for G6PD mutations by PCR-based techniques and DNA sequencing and results showed a 24 bp deletion of nucleotide 953-976 in the exon 9 of the G6PD gene. DNA analysis was also performed on blood samples of the patient's mother and female sibling confirming their heterozygous status, although both showed normal red cell G6PD activity levels. The patient was discharged well and his parents were appropriately advised on the condition and the importance of taking folic acid regularly. This is a first case report in Malaysia of G6PD deficiency causing chronic-hemolytic anemia. The rare 24 bp deletion causes the G6PD Nara variant, previously reported only in two other unrelated males, a Japanese and a Portuguese both with chronic hemolytic anemia.
From 1981 to 1989, 12 patients of the University Hospital, Kuala Lumpur, were diagnosed to have Evans syndrome based on direct antiglobulin test (DAT) positive haemolytic anaemia and immune thrombocytopenia occurring either simultaneously (7 patients) or consecutively (5 patients). Their mean age at presentation was 24.8 years with a marked female preponderance. All 12 patients were given high dose steroid after diagnosis. Subsequently, other modalities including intravenous immunoglobulin (1 patient) and high dose methylprednisolone (1 patient) were given. Three patients died of intracranial haemorrhage during the first admission while 1 patient died of pulmonary embolism six months after diagnosis. Three patients had splenectomy because of thrombocytopenia. Six patients tested positive for antinuclear factor and antibodies to double stranded DNA and four of them died. Positive serology appeared to be associated with a poorer prognosis. Follow up observations indicate that patients who survive the acute attacks fare reasonably well.
In a survey of over 1,000 patients with leprosy, 47 cases ( 4.4 per cent) were found to have glucose-6-phosphate dehydrogenase deficiency. A controlled clinical study suggests that such a deficiency does not modify the overall response to therapy but may predispose to a greater tendency to leprosy reactions. All patients were receiving 600 to 800 mgm. of sulphone per week and none had a frank haemolytic anaemia.
The presence of serum cold agglutinin can be the initial presentation of lymphoproliferative diseases. Conditions with persistent cold agglutinins are a spectrum of diseases that vary from benign lymphoproliferation of the "autoimmune-like chronic cold agglutinin disease" to malignant lymphoma. We report a case of a 72-year-old woman who presented with severe anaemia, hepatosplenomegaly and episodes of peripheral haemagglutination precipitated by cold exposure. The haemoglobin was 5.6 g/dL with a cold agglutinin titer of 1:256 at 4 degrees C and 1:8 at room temperature (30 degrees C). The cold agglutinin showed anti-I specificity and kappa light chain restriction. Peripheral blood showed atypical lymphoid cells with a B-cell immunophenotype. Immunoglobulin gene rearrangement study by polymerase chain reaction (PCR) showed an amplified band at 100 bp, consistent with a clonal proliferation of B-lymphocytes. We believe that our patient had cold antibody haemolytic anaemia as the initial presentation of a low-grade non-Hodgkin's lymphoma. The association of cold antibody haemolytic anaemia with low-grade B-cell lymphoma is unusual.
Cerebral Venous Thrombosis in patients with Evan’s Syndrome of autoimmune hemolytic anemia is rare. The
common neurological symptoms are headaches, vision loss, dyslexia without agraphia, motor aphasia,
unilateral upper limb weakness and papilloedema. We present a case report of a lady with a known case of
Evan’s Syndrome whom presented with severe anemia and unilateral right sided hemiparesis with right facial
weakness. Plain and Contrast enhanced CT brain showed bilateral high parietal white matter edema with
venous thrombosis in the right transverse and superior sagittal venous sinuses. At the time of the diagnosis,
she was in hematological remission.
INTRODUCTION: Glycohemoglobin (HbA1c) most accurately reflects the previous two to three months of glycaemic control. HbA1c should be measured regularly in all patients with diabetes, and values should be maintained below 7% to prevent the risk of chronic complications. Apart from the genetic variants of haemoglobins many other conditions also known to affect HbA1c measurements. In this study we evaluated the conditions that cause low HbA1c results.
METHODS AND MATERIALS: The data was collected retrospectively HbA1c was measured in our laboratory by Biorad Variant II turbo 2.0. The method is based on chromatographic separation of HbA1c on a cation exchange cartridge. This method has been certified by National Glycohemoglobin Standardization Programme (NGSP). 58437 requests were received in a period of one year (January to December 2011). Medical records were reviewed to identify the conditions that might be associated with these low values.
RESULTS: Among 58437 samples analysed, 53 patients had HbA1c levels < 4.0%. Fourteen patients had haemoglobinopathy. In 34 patients without Hb variants had conditions such as chronic liver disease, chronic kidney disease, haemolytic anaemia, pregnancy, and anaemia of chronic disease. Five non-pregnant individuals who were screened for diabetes mellitus had HbA1c levels < 4%.
CONCLUSION: Our study underscores the importance of that both laboratories and the physicians should be aware of the factors that can influence the HbA1c results. The haematological status should be taken into consideration for proper interpretation of HbA1c results.
Brucellosis is a rare zoonotic infection caused by small, fastidious Gram-negative coccobacilli of the genus Brucella that may be associated with haemolytic complications including thrombotic microangiopathy and haemolytic anaemia. We describe a patient with culture confirmed brucellosis who presented with malaise, high grade fever, hepatosplenomegaly and Coombs-positive autoimmune haemolytic anaemia. The patient was successfully treated with combination of doxycycline and rifampicin with no further episodes of relapses or haemolysis. Although rare, the possibility of brucellosis should always be kept in mind in patients with risk factors who present with haemolysis and endemic area.