1/45. A case of complete adenylate kinase deficiency due to a nonsense mutation in AK-1 gene (Arg 107 --> Stop, CGA --> TGA) associated with chronic haemolytic anaemia.Two siblings of Italian origin with mild chronic haemolytic anaemia, psychomotor impairment and undetectable adenylate kinase (AK) activity are reported. The other red cell enzyme activities were normal except for a slight decrease of PFK. 2,3-DPG levels were increased in both siblings, and AMP decreased in one only. The parents were not consanguineous and displayed intermediate AK activity. The sequence of complete erythrocyte AK-1 cDNA showed the presence of a nonsense homozygous mutation at codon 107 (CGA --> TGA, Arg --> Stop) in the siblings. The mutation results in a truncated protein of 107 amino acids in comparison with the 194 of the normal one. Moreover a 37 bp deletion in the first part of exon 6 (from nt 326 to nt 362 of the cDNA sequence) was detected in one allele; this deletion is not likely to further affect the enzyme structure, being localized after the stop codon. The new variant was named AK Fidenza, from the origin of the patients.- - - - - - - - - - ranking = 1keywords = anaemia (Clic here for more details about this article) |
2/45. Chronic intoxication by doxycycline use for more than 12 years.We report the clinical case of a 12-years' intoxication by doxycycline. A patient with a depersonalization and derealization syndrome took 1 g doxycycline per day. In addition to hepatocellular necrosis with cholestasis, nephrotoxicity, leukopenia, anaemia and skin hyperpigmentation he suffered from hitherto unreported adverse cardiac events as intermittent supraventricular tachycardia and sporadic Wenckebach heart block. Despite a long period of self-medication these side-effects were reversible.- - - - - - - - - - ranking = 0.2keywords = anaemia (Clic here for more details about this article) |
3/45. The syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia. Report of a new family and a review.A new autosomal recessive syndrome of chronic recurrent multifocal osteomyelitis (CRMO) and congenital dyserythropoietic anaemia (CDA) with microcytosis has recently been described in four children (two sibships) of one consangineous Arab family. In this report, we describe the clinical features and course of the syndrome of CRMO and CDA in two additional patients (one sibship) from another consanguineous Arab family and review the literature. The two patients (brother and sister), the products of a consanguineous marriage, developed the syndrome at an early age of 3 weeks and 2 months respectively. The diagnosis of CRMO was confirmed by radiological and technetium isotope bone scans. bone marrow studies confirmed the diagnosis of CDA. Peripheral blood films showed hypochromia and microcytosis. The sites involved by CRMO were periarticular, mainly around the elbow, knee, wrist and small joints of the hand. The brother is now 21 years old and the sister 3.5 years old and CRMO is still active with frequent relapses. The brother developed flexion deformities at the age of 13 years. Both patients failed to thrive; weight and height were below the 5th percentile. CONCLUSION: This is the second report of the syndrome of chronic recurrent multifocal osteomyelitis and microcytic congenital dyserythropoietic anaemia, confirming it as a clinical entity, inherited as an autosomal recessive trait. The disease is characterised by an early onset, long clinical course of remissions and relapses, and seems to be different from the sporadic form of chronic recurrent multifocal osteomyelitis.- - - - - - - - - - ranking = 1.2keywords = anaemia (Clic here for more details about this article) |
4/45. Chronic haemolytic anaemia and glucose-6 phosphate dehydrogenase deficiency. Case report and review of the literature.Deficiency in glucose-6-phosphate dehydrogenase (G6PD) is the most common enzymopathy, and more than 125 different mutations causing G6PD deficiency have been identified. Chronic haemolytic anaemia (CHA) associated with G6PD deficiency is rare, but there is a cluster of mutations causing CHA between amino acids 361-428 which are encoded by exon 10 of the G6PD gene. This region is involved in the dimer formation of the active G6PD enzyme and therefore plays an important role for enzyme stability and activity. Here, we report a 17-year-old patient with CHA, who carries a rare G --> A mutation at nucleotide 1160 which causes an R387H amino acid substitution. We review the reports of the seven previously described patients with this mutation, concluding that G6PD deficiency should be considered as a rare differential diagnosis of chronic haemolytic, non-spherocytic anaemia.- - - - - - - - - - ranking = 1.2keywords = anaemia (Clic here for more details about this article) |
5/45. Unstable-haemoglobin haemolytic anaemia.A 6-year-old girl suffering from chronic haemolytic anaemia with crisis induced by drugs and infections is described. The disorder was diagnosed as an unstable-haemoglobin haemolytic anaemia. The heat stability test, simple and specific for unstable haemoglobins is mentioned, it should be done in every child suffering from unexplained chronic haemolytic anaemia. The haemoglobin variant is also known in a patient in brazil as Hb Niteroi.- - - - - - - - - - ranking = 1.4keywords = anaemia (Clic here for more details about this article) |
6/45. Rituximab for chronic recurring thrombotic thrombocytopenic purpura: a case report and review of the literature.Deficiency of von willebrand factor (VWF) cleaving protease ADAMTS13 has been demonstrated to be the proximate cause of a subset of thrombotic microangiopathic haemolytic anaemias (MAHA) typical for thrombotic thrombocytopenic purpura (TTP). ADAMTS13 gene mutations cause the hereditary form; acquired deficiency has been attributed to presence of an autoantibody, which may represent a specific subset of MAHA best termed 'autoimmune thrombotic thrombocytopenic purpura'. We describe a patient with relapsing TTP because of ADAMTS13 inhibitors, who failed to achieve sustained remission despite therapies with plasma exchange, steroids, vincristine, staphylococcal protein a and splenectomy. The ADAMTS13 inhibitor titre remained elevated and clinical stability was only maintained by plasma exchange every 2-3 d over a period of 268 d. The patient then received rituximab therapy (eight doses of 375 mg/m2 weekly), during which she required five plasma exchanges in the first 10 d, two exchanges in the next 3 weeks, and none thereafter for 450 d and ongoing. The ADAMTS13 inhibitor titre decreased and enzyme activity increased. We compared this case with that of seven previously reported TTP cases also treated with rituximab; experience suggests that rituximab therapy deserves further investigation for patients with either refractory or relapsing TTP caused by ADAMTS13 inhibitors.- - - - - - - - - - ranking = 0.2keywords = anaemia (Clic here for more details about this article) |
7/45. Gastrodiscoides hominis infection in a Nigerian-case report.Gastrodiscoides hominis is a large fluke of pig and human and constitutes an important parasite of human in Assam, Indian, the philippines and Southeast asia. This parasite has not been reported in nigeria and possibly other parts of africa. This is a case report of a seven year old Nigerian child who presented with features of malnutrition and anaemia and was found to have Gastrodiscoides hominis and ascaris lumbricoides. Following clearance of the worms there was tremendous improvement of the health status of the child. The detailed epidemiology of this parasite still remains to be studied in this environment.- - - - - - - - - - ranking = 0.2keywords = anaemia (Clic here for more details about this article) |
8/45. Successful treatment with the monoclonal antibody rituximab in two children with refractory autoimmune thrombocytopenia.Rituximab is a chimeric monoclonal antibody directed against normal and malignant mature b-lymphocytes and results in prolonged and severe B-cell depletion. Recently, rituximab has been successfully used in adult and paediatric disorders of b-lymphocytes such as autoimmune haemolytic anaemia and Werlhof disease. We report on two children with chronic immune thrombocytopenic purpura (ITP) refractory to steroids and immunoglobulins who achieved complete normalisation of their platelet counts after treatment with rituximab, 375 mg/m2 given weekly in four doses. In both cases the B-lymphocyte count dropped to zero after the second dose of rituximab and an unsupported platelet count > 100 x 10(9)/l was achieved during treatment. Six and 12 months after treatment, both patients remain well with normal platelet counts. CONCLUSION: This report supports the concept that rituximab may also be a valuable therapeutic option in children with chronic immune thrombocytopenic purpura refractory to standard treatment. Controlled clinical trials are needed to evaluate the efficacy and long-term side-effects of rituximab in this group of patients.- - - - - - - - - - ranking = 0.2keywords = anaemia (Clic here for more details about this article) |
9/45. Detection of chlamydophila pneumoniae in the bone marrow of two patients with unexplained chronic anaemia.Anaemia of chronic disease (ACD) is a common finding involving iron deficiency and signs of inflammation. Here, we report on two patients with ACD where a persistent infection with Chlamydophila (chlamydia) pneumoniae (CP) was detected in bone marrow (BM) biopsies. infection was suspected by routine cytology and confirmed by immunofluorescence, electron microscopy, polymerase chain reaction (PCR) including different primer sets and laboratories and sequencing of the PCR product. This is a first report of chlamydial presence in the BM of anaemic patients. The cases are presented because persistent chlamydial infection may contribute more frequently to chronic refractory anaemia than previously suspected.- - - - - - - - - - ranking = 1keywords = anaemia (Clic here for more details about this article) |
10/45. Chronic falciparum malaria causing massive splenomegaly 9 years after leaving an endemic area.A 28-year-old woman from sudan who had lived for 9 years in victoria, australia, was diagnosed with falciparum malaria 2 months after splenectomy for massive splenomegaly of unknown cause. Chronic falciparum malaria can occasionally present years after leaving endemic areas in partially immune patients. It should be considered in such patients with presentations possibly related to malaria, including splenomegaly, anaemia, or a long history of intermittent fevers and chills.- - - - - - - - - - ranking = 0.2keywords = anaemia (Clic here for more details about this article) |
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