Hereditary spherocytosis is a rather uncommon disease in Malaysia as only 16 patients were seen in our hospital over a 13 year period. Pallor, jaundice and splenomegaly were common physical signs. Clinical severity of the disease was variable and more than half of them needed splenectomy. Complications including haemolytic crisis and cholelithiasis were encountered but not aplastic crisis. All 10 patients who underwent splenectomy had uniformly good results and none of them had post-operative complications.
This case report describes a 35-year-old lady who presented with generalized weakness and lethargy of two weeks duration and jaundice of more than 20 years duration. Her initial workup was suggestive of haemolysis and blood film showed a leucoerythoblastic picture with moderate microspherocytes. She was finally diagnosed as a case of hereditary spherocytosis after ruling out other possible causes of chronic haemolysis and supported by an abnormal osmotic fragility test, although family members refused for screening. Hereditory spherocytosis is uncommon in Malay population and presentation with jaundice of 20 years duration with leucoerythroblastic picture on blood film were interesting features in this case. Patient is being followed closely for need of splenectomy in near future as per severity of haemolysis and currently being managed with folic acid supplement.
Haemophagocytic lymphohistiocytosis (HLH) is a clinico-pathologic entity caused by increased proliferation
and activation of benign macrophages with haemophagocytosis throughout the reticulo-endothelial system.
Virus-associated HLH is a well-recognised entity. Although majority of parvovirus B19 associated HLH does not
require any specific treatment and carries good prognosis, outcome of children is worse than adults. We report
here a case of HLH associated with acute parvovirus B19 infection in a young healthy patient with underlying
hereditary spherocytosis, with bone marrow findings typical of parvovirus infection. Although this patient
had spontaneous recovery of cell counts, he succumbed due to complication from prolonged ventilation.
Unexpectedly, his immunoglobulin levels were inappropriately normal despite on-going ventilator associated
pneumonia, which reflects inadequate humoral immune response towards infection.
Skeletal proteins play an important role in determining erythrocyte membrane biophysical properties. To study whether membrane deformability and stability are regulated by the same or different skeletal protein interactions, we measured these two properties, by means of ektacytometry, in biochemically perturbed normal membranes and in membranes from individuals with known erythrocyte abnormalities. Treatment with 2,3-diphosphoglycerate resulted in membranes with decreased deformability and decreased stability, whereas treatment with diamide produced decreased deformability but increased stability. N-ethylmaleimide induced time-dependent changes in membrane stability. Over the first minute, the stability increased; but with continued incubation, the membranes became less stable than control. Meanwhile, the deformability of these membranes decreased with no time dependence. Biophysical measurements were also carried out on pathologic erythrocytes. Membranes from an individual with hereditary spherocytosis and a defined abnormality in spectrin-protein 4.1 association showed decreased stability but normal deformability. In a family with hereditary elliptocytosis and an abnormality in spectrin self-association, the membranes had decreased deformability and stability. Finally, membranes from several individuals with Malaysian ovalocytosis had decreased deformability but increased stability. Our data from both pathologic membranes and biochemically perturbed membranes show that deformability and stability change with no fixed relationship to one another. These findings imply that different skeletal protein interactions regulate membrane deformability and stability. In light of these data, we propose a model of the role of skeletal protein interactions in deformability and stability.
Extramedullary hematopoiesis (EH) is a rare but well-known compensatory mechanism of red blood cell production when the normal site of red bone marrow is unable to produce sufficient number of red blood cells. When the body demands for erythrocyte cells is high this lead to EH. This occurs mainly outside the bone marrow, usually paraspinally and sites which are normally observed in the fetus as in the liver, spleen, lymph nodes and less frequently at other sites such as adrenal, thymus, kidneys, pleura, breast, skin, gastrointestinal tract, dura mater and brain.This is more frequent in thalassaemia major (incidence up to 15% of cases), in myelofibrosis, myeloproliferative diseases (polycythemia rubra vera, chronic myeloid leukemia,), hemolytic anemias such as hereditary spherocytosis, pyruvate-kinase deficiency, medullary tuberculosis and in Paget’s disease of the bone. In some cases the cause of the EH are not identified [3]. We describe a case of EH in the presacral space that mimicked an ovarian mass on ultrasound in a patient with beta-thalassaemia intermedia.