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Biomedical subjects

B J Bain

Publications and source records attributed to B J Bain.

At least 19 recordsLinked to original sources

Inaccuracy of high-performance liquid chromatography estimation of haemoglobin F in the presence of increased haemoglobin A1c.

Increasingly high-performance liquid chromatography is being used for identification and quantification of normal and variant haemoglobins. In many laboratories, the Beta Thal Short programme of the Bio-Rad Variant II instrument is used for this purpose. We noted that a factitious elevation of haemoglobin F was sometimes observed in diabetic patients and therefore carried out a systematic study of this phenomenon. We found discrepant results in 41% of samples from diabetic patients but in no normal volunteers. This factitious elevation could be predicted from a retention time for haemoglobin F of more than 1.15 min, the normal retention time being 1.08-1.15 min. Haemoglobinopathy laboratories need to be alert to the possibility of this erroneous result.

Chromatography, High Pressure Liquid↗

Reassessment of a simple chemical method using DCIP for screening for haemoglobin E.

BACKGROUND: Haemoglobin E is a variant haemoglobin that can lead to considerable morbidity in compound heterozygous states with beta thalassaemia. Therefore, its detection is important because it permits antenatal counselling. The parts of the world where haemoglobin E is prevalent are resource poor and detection can therefore be problematical. A simple visual test using 2,6-dichlorophenolindophenol (DCIP) has been developed in Thailand, but its use has not become widespread. This test has now become available in kit form. AIMS/METHODS: To evaluate the new DCIP test kit for the detection of haemoglobin E. RESULTS: Seventeen of 18 samples from individuals with haemoglobin E gave positive results and one gave an equivocal result. False positive or equivocal results were seen in three of 21 individuals with other disorders of globin chain synthesis but were not seen in normal subjects. CONCLUSIONS: This study evaluated the sensitivity, specificity, and reproducibility of the kit and confirmed the usefulness of the DCIP test as a screening test for haemoglobin E. In countries with limited health resources, its use would reduce the number of samples requiring referral to a central laboratory for definitive tests.

2,6-Dichloroindophenol↗

Cough and hypereosinophilia due to FIP1L1-PDGFRA fusion gene with tyrosine kinase activity.

Eosinophil-associated conditions, such as asthma and eosinophilic bronchitis, have been associated with chronic persistent cough, usually responding to corticosteroid therapy. This case study reports a case of persistent cough associated with gastro-oesophageal reflux (GOR) and hypereosinophilia. Treatment of GOR with proton pump inhibitors and fundoplication did not control the cough. However, high dose prednisolone, but not inhaled corticosteroids, did. The presence of the FIP1L1-PDGFRA fusion gene in myeloid cells was confirmed by fluorescence in situ hybridisation analysis using CHIC2 deletion as a surrogate marker. The cough and other disease features were subsequently suppressed by the tyrosine kinase inhibitor, imatinib. This is the first case of persistent cough caused by hypereosinophilic syndrome characterised by FIP1L1-PDGFRA fusion gene and aberrant tyrosine kinase activity.

Amino Acid Sequence↗

Are routine iron stains on bone marrow trephine biopsy specimens necessary?

AIMS: To determine the role of Perls' staining in bone marrow trephine biopsy sections. METHODS: The haemosiderin content of 155 Perls' stained, formic acid decalcified trephine biopsy sections was assessed and compared with Perls' stained aspirate samples in 105 cases and haematoxylin and eosin (H&E) stained biopsy sections in all cases. RESULTS: An evaluable aspirate film with positive iron or at least seven negative particles was available for 105 biopsies. Only 71 of 95 cases with detectable aspirate iron had haemosiderin detectable on a Perls' stained section. None of 10 samples with a negative aspirate had a positive trephine biopsy. Haemosiderin was positive in 101 of the 155 Perls' stained sections, and was detectable on the H&E stained section in 71 of these cases. In five of 54 cases with negative Perls' staining, a small amount of haemosiderin was thought to be present on H&E staining. CONCLUSIONS: Aspirate smears reflect bone marrow iron stores more reliably than formic acid decalcified trephine biopsy sections. The presence of iron in Perls' stained aspirates in 44% of cases with negative Perls' stained sections indicates that iron is often lost from sections during decalcification. However, 61% of cases with unassessable aspirate samples had a positive trephine biopsy Perls' stain, contributing useful clinical information about iron status. Preparation of Perls' stained sections only in cases in which aspirate samples are inadequate for iron assessment and no obvious haemosiderin is present in an H&E stained section could produce savings in staff time and reagent costs.

Algorithms↗

Bone marrow biopsy morbidity: review of 2003.

BACKGROUND: Although some hazards are recognised, in general, bone marrow aspiration and trephine biopsy are thought to be safe procedures. Until recently, no attempt had been made to quantify any attendant risks. For this reason, documentation of adverse events was begun in 2001, under the auspices of the British Society for Haematology. Three consecutive years have now been surveyed, the results for 2003 being presented here and compared with earlier results. METHODS: Members of the British Society of Haematology were requested to document adverse events associated with diagnostic bone marrow aspirates and trephine biopsies between 1 January and 31 December, 2003. Data were collected early in 2004. RESULTS: In total, 19,259 procedures were reported from 63 hospitals, 13,147 being combined procedures and 6112 aspirates without a trephine biopsy. Sixteen adverse events were reported, representing 0.08% of total reported procedures. The major adverse event was haemorrhage, which comprised 11 of the 16 adverse events. Although infrequent, adverse events were associated with significant morbidity and three were judged as very serious. The major risk factors for haemorrhage, in order of frequency, were diagnosis of a myeloproliferative disorder, aspirin treatment, other putative platelet dysfunctions, and thrombocytopenia. CONCLUSIONS: Adverse events following trephine biopsies and bone marrow aspirates are rare, but nevertheless can have considerable impact on individual patients.

Biopsy, Needle↗

Report on slide session, British Society for Haematology, 43rd Annual Scientific Meeting, Glasgow, 2003.

Seven patients who had a diagnostic problem were presented at the British Society for Haematology, Annual Scientific Meeting in 2003. The likely diagnosis was discussed on the basis of a synopsis of the history and blood film and trephine biopsy features and forms the basis of this report. Diagnostic problems dealt with included lymphoproliferative and myeloproliferative disorders and haemolytic anaemia.

Adult↗

Bone marrow biopsy morbidity and mortality: 2002 data.

A survey of morbidity and mortality of bone marrow aspiration and trephine biopsy was carried out for the British Society of Haematology, covering the 12 months of 2002. Fifty-three centres reported 13,506 procedures, comprising 3927 aspiration biopsies and 9579 combined procedures. There were 17 adverse events including nine instances of haemorrhage, four infections and one haemorrhage complicated by infection. Two trephine biopsy needles broke during the procedure. One patient suffered considerable pain for 2 weeks. The adverse event may have contributed to death in two patients and in a third patient was life-threatening. Risk factors for adverse events were identified.

Biopsy↗

Unusual splenic sinusoidal iron overload in sickle cell/haemoglobin D-Punjab disease.

Sickle cell/haemoglobin D-Punjab disease is a disorder with similar clinical features to sickle cell anaemia. This report describes the case of an 11 year old boy with this disease who was treated with regular transfusions from infancy. He underwent splenectomy at the age of 10 years for hypersplenism. Histology of the spleen revealed a striking pattern of heavy sinusoidal endothelial iron loading, with only moderate uptake by macrophages. Possible explanations for this unusual distribution of iron include phagocytosis of sickled erythrocytes by sinusoidal endothelial cells or direct endothelial iron uptake via transferrin receptors. Transfusion programmes ameliorate the symptoms of sickle cell disease but the dangers of iron overload should always be remembered.

Anemia, Sickle Cell↗

Some observations on the measurement of haemoglobin A2 and S percentages by high performance liquid chromatography in the presence and absence of alpha thalassaemia.

AIMS: To assess the accuracy and precision of measuring haemoglobin A(2) by high performance liquid chromatography (HPLC) in the presence and absence of sickle cell trait, with or without alpha thalassaemia trait. METHODS: The haemoglobin A(2) percentage and the haemoglobin A(2) plus S percentages were determined by HPLC on 82 normal controls and 78 patients with sickle cell trait, respectively; the alpha thalassaemia status of each patient was determined by polymerase chain reaction. Red cell indices and haemoglobin A(2) and S percentages were compared in patients with two, three, or four alpha genes. RESULTS: Of the 78 patients with sickle cell trait, 17 were heterozygous for alpha(+) thalassaemia (-alpha(3.7)/alphaalpha) and 13 were homozygous (-alpha(3.7)/-alpha(3.7)). Microcolumn chromatography showed that the haemoglobin A(2) percentage was slightly, but significantly, higher than normal in sickle cell trait. HPLC determinations of haemoglobin A(2) percentage in patients with sickle cell trait are precise but inaccurate, the percentage being appreciably overestimated. The measured haemoglobin A(2) percentage is stable for one week, but inaccuracy increases by two weeks in most samples. Despite this inaccuracy, there are significant differences in the HPLC "haemoglobin A(2) percentage" between groups of individuals with two, three, and four alpha genes. CONCLUSIONS: Haemoglobin A(2) determinations by HPLC are precise but inaccurate. Nevertheless, there are significant differences in the haemoglobin A(2) percentage in subjects with two, three, and four alpha genes. Although there is some overlap between groups, this can be useful, together with the red cell indices, in predicting the likelihood of coexisting alpha thalassaemia.

Algorithms↗

How should stainable iron in bone marrow films be assessed?

AIMS: To identify how many particles should be examined to enable a confident assessment of the presence or absence of iron stores and the quantity of iron in a bone marrow aspirate to be made. METHODS: One hundred and ninety consecutive bone marrow aspirate samples were stained with Perls' stain and the iron content of 10 consecutive particles was recorded. The first particle found to be positive and the particle that was most positive were also noted. RESULTS: A minimum of seven particles must be examined to establish the absence of stainable iron. A minimum of nine particles must be reviewed to see the maximum iron stores in 100% of samples and therefore make a valid judgment of whether iron stores are reduced, normal, or increased. By these criteria, 46% of the samples tested here could not be optimally assessed for absence of iron or maximum iron stores. CONCLUSIONS: The sensitivity of examination of bone marrow aspirates for iron stores can be optimised by increasing the number of particles reviewed to seven or more. This may require the staining of additional slides.

Bone Marrow↗

Chronic eosinophilic leukaemia presenting with erythroderma, mild eosinophilia and hyper-IgE: clinical, immunological and cytogenetic features and therapeutic approach. A case report.

A 23-year-old, white male metallurgist presented with pruritic erythematous maculo-papules over the trunk and upper limbs and 6 months later developed erythroderma, eosinophilia and multi-organ dysfunction. A diagnosis of chronic eosinophilic leukaemia was made on the basis of myeloproliferative involvement of both peripheral blood and bone marrow, associated with eosinophilic differentiation and a t(5;12)(q33;p13) translocation. The initial therapeutic approach was interferon alfa-2b plus cytosine arabinoside, for 13 months, followed by hydroxyurea plus vincristine. There was improvement of skin lesions, disappearance of eosinophilia and decrease of serum immunoglobulin E, towards normal values.

Adult↗

EVI1 expression in acute myeloid leukaemia.

Acute myeloid leukaemia (AML) with 3q26 cytogenetic abnormalities is associated with overexpression of EVI1, dysmegakaryopoiesis and poor prognosis. Screening for EVI1 transcripts was performed in 336 cases of AML, including 139 patients with acute promyelocytic leukaemia (APL). Expression was detected in 7 out of 10 cases with and 23 out of 326 without 3q26 abnormalities including one APL case. Among cases lacking 3q abnormalities, detection of EVI1 transcripts was neither associated with characteristic dysmegakaryopoietic features, nor predictive of a poor outcome, indicating that screening will probably not assist in treatment stratification. This study nevertheless demonstrates that deregulation of EVI1, although rare in APL, is a relatively frequent event in AML.

Acute Disease↗