Pathophysiological Relevance of Renal Medullary Conditions on the Behaviour of Red Cells From Patients With Sickle Cell Anaemia

Red cells from patients with sickle cell anaemia (SCA) contain the abnormal haemoglobin HbS. Under hypoxic conditions, HbS polymerises and causes red cell sickling, a rise in intracellular Ca2+ and exposure of phosphatidylserine (PS). These changes make sickle cells sticky and liable to lodge in the microvasculature, and so reduce their lifespan. The aim of the present work was to investigate how the peculiar conditions found in the renal medulla – hypoxia, acidosis, lactate, hypertonicity and high levels of urea – affect red cell behaviour. Results show that the first four conditions all increased sickling and PS exposure. The presence of urea at levels found in a healthy medulla during antidiuresis, however, markedly reduced sickling and PS exposure and would therefore protect against red cell adherence. Loss of the ability to concentrate urine, which occurs in sickle cell nephropathy would obviate this protective effect and may therefore contribute to pathogenesis.

Avascular necrosis of the jaw resulting from sickle cell disease

Sickle cell disease (SCD) is a hemoglobin disorder characterized by the presence of abnormal haemoglobin. The deformed cells cause the blood to be more viscid, leading to vaso occlusive crises (VOC). We report an osteonecrosis of the jaw resulting of a VOC in a patient with sickle cell disease. Dental infections, particularly apical cysts, appear to be local factors favouring mandibular infarcts associated with sickle cell disease.

Pattern distribution of abnormal hemoglobin variants by cation exchange High Performance Liquid Chromatography: a study of 9,116 subjects

Background: The present study was conducted to identify pattern distribution of abnormal haemoglobin variants by using HPLC method in a tertiary care hospital, Surat, Gujrat, India.Methods: A cross sectional study of one-year duration was conducted including 9,116 patients screened for the presence of abnormal haemoglobin variants. Blood samples were initially tested for solubility test and run on automated haemoglobin analyzer for complete haemogram. All the suspected and family study cases were processed for HPLC (Bio-Rad Variant II) for conclusive diagnosis. Patients with a history of recent blood transfusion of less than 3 months duration were excluded from the study.Results: A total of 9,116 cases (1390 males, 7726 females) were included in the present study. The age group of patients ranged from 1 month to 95 years. Solubility test and complete haemogram were performed in all the cases. Out of the 9,116 cases, 8409(92.24%)cases had normal HPLC pattern. 492(5.40%)cases were diagnosed as sickle cell trait, 176(1.93%) cases as sickle cell disease, 29(0.32%) cases as β thalassaemia trait, 1(0.01%) case as β thalassaemia major, 2(0.02%)cases as Hb E heterozygous and 03 (0.07%) cases as Hb D Punjab heterozygous. One case of double heterozygous for Hb E-β thalassaemia was also found.Conclusions: HPLC is a rapid, accurate and useful method for diagnosing haemoglobinopathies. It serves as an reliable tool in diagnosing the presence of abnormal haemoglobin variants in suspected cases on routine haematology in developing countries like India, where the resources for detection of haemoglobinopathies are limited. Early diagnosis may help in proper management of patients.

Acute Pancreatitis as a Complication of Sickle Cell Anaemia

A common cause of abdominal pain is acute pancreatitis, with the majority of cases being attributed to gallstones and excess alcohol. Sickle cell anaemia (SCA) is an autosomal recessive disease causing the production of abnormal haemoglobin. Physiological changes can lead to vaso-occlusion in sickle cell anaemia. Cholelithiasis is frequently seen in patients with SCA and complications from this can increase patient morbidity. We present a rare case of acute pancreatitis inducing a vaso-occlusive crisis.

Manual RBC exchange transfusion in a patient of sickle-beta thalassemia syndrome presenting in crisis: a case report

Sickle cell disease and beta thalassemia are caused by abnormal haemoglobin (Hb) derived from mutation of the HBB gene encoding beta-globin. Compound heterozygous status for both mutations results in HbS/beta thalassemia (Sickle- beta thalassemia). Vaso-occlusive phenomena and haemolysis are the clinical hallmarks and major causes of mortality. Here we report a case of successful reduction of HbS level by manual RBC exchange transfusion. Capillary zone electrophoresis showed the case to be Sickle-beta thalassemia. A total of 3 units of 450ml whole blood units were used for manual exchange transfusion done in 2 sittings on consecutive days. Preexchange HbS level was 80.9% of total Hb. HbS level after 24 hours of the second procedure was 44%. In the absence of facility to conduct automated RBC exchange by a cell separator, to reduce HbS in patients presenting with acute complications of SCD and in patients with Vaso-occlusive Crisis, previous stroke, manual RBC exchange can provide a better relief.

Sickle cell disease

The haemoglobinopathies are the most common monogenetic diseases in the world. They include the thalassaemias and sickle cell syndromes. The sickle cell syndromes encompass several abnormal haemoglobin variants, of which homozygosity for the sickle cell gene – that is, sickle cell anaemia is the most common and most severe. Originally characteristic of the tropics and subtropics, recent mobility and migratory trends have meant that the prevalence of sickle cell disease (SCD) has significantly increased in the UK. It is important that GPs have an understanding of this disease, in order to help their patients deal with complications of every-day life. This article will address three main aspects of SCD: diagnosis, health maintenance, and some acute and chronic complications of SCD.

Musculoskeletal Manifestations of Sickle Cell Anaemia: A Pictorial Review

Sickle cell anaemia is an autosomal recessive genetic condition producing abnormal haemoglobin HbS molecules that result in stiff and sticky red blood cells leading to unpredictable episodes of microvascular occlusions. The clinical and radiological manifestations of sickle cell anaemia result from small vessel occlusion, leading to tissue ischemia/infarction and progressive end-organ damage. In this paper we discuss and illustrate the various musculoskeletal manifestations of sickle cell disease focusing primarily on marrow hyperplasia, osteomyelitis and septic arthritis, medullary and epiphyseal bone infarcts, growth defects, and soft tissue changes.