Case 30: hypereosinophilia.
A young man presented with systemic symptoms and marked eosinophilia. Subsequently cyclical weight gain and edema contributed to a diagnosis.
Biomedical subjects
Publications and source records attributed to Barbara J Bain.
A young man presented with systemic symptoms and marked eosinophilia. Subsequently cyclical weight gain and edema contributed to a diagnosis.
A 39-year-old man presented with a pruritic rash, abdominal pain, weight loss and eosinophilia. A subsequent emergency laparotomy disclosed the nature of his underlying illness and the cause of the eosinophilia.
Eight cases discussed by experts at the 2006 Annual Scientific Meeting of the British Society for Haematology are presented as at the meeting, with a discussion of the morphological features and differential diagnosis being followed by further information and a final diagnosis.
Adverse events following bone marrow biopsy are rare but poorly documented. Annual UK surveys are building up a data-base on the frequency and nature of such complications, which will provide the evidence on which recommendations can be based. The latest annual survey documented 15 adverse events, mainly hemorrhagic, among 20323 procedures.
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A single-tube osmotic fragility test has been proposed for thalassemia screening with a range of different concentrations of saline having been employed. We have compared the sensitivity and specificity of 0.32%, 0.34%, and 0.36% buffered saline, and on the basis of our findings, recommend the use of 0.36% saline. This gave definitely positive or equivocal results in 81 of 85 patients with beta thalassemia trait and in 4 of 4 with alpha(0) thalassemia trait. There were 14% false positive results in hematologically normal patients and 81% of the samples from patients with various variant hemoglobins gave positive results. The sensitivity was 95% and specificity 86%. The single-tube osmotic fragility test is potentially useful in under-resourced laboratories although it cannot replace automated red cell indices using electronic counters.
Despite the advances in automated blood cell counting, the blood film retains a crucial role in the diagnosis of red cell disorders. It is particularly important in haemolytic anaemias and in the differential diagnosis of macrocytic anaemia. However, all cases of anaemia in which the diagnosis is not immediately obvious require a blood film. Blood film examination sometimes provides a definitive diagnosis but more often suggests a differential diagnosis that indicates which further tests are most appropriate. The blood film has the advantage of speed; this is clinically important in any severe anaemia but particularly in acute haemolytic anaemia, thrombotic thrombocytopenic purpura and megaloblastic anaemia. Polycythaemic as well as anaemic patients require blood film examination.
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Chronic eosinophilic leukemia is a neoplastic condition with persistent eosinophilia as the major hematological abnormality and with the eosinophils being part of the neoplastic clone. Some cases can be recognized by traditional hematological criteria, but many can be recognized only when a clonal cytogenetic or molecular genetic abnormality is demonstrated. A range of cytogenetic and molecular genetic abnormalities has been recognized, including both those seen in other myeloid malignancies (such as trisomy 8, monosomy 7, and 20q-) and those that are particularly linked to eosinophil differentiation (such as rearrangements of PDGFRB, FGFR1, and PDGFRA, the latter with formation of a FIP1L1-PDGFRA fusion gene). The discovery of the FIP1L1-PDGFRA fusion gene has led to the recognition that many patients who would previously have been regarded as having idiopathic hypereosinophilia actually have chronic eosinophilic leukemia. The same fusion gene has also been found in patients with hypereosinophilia and atypical bone marrow mast cells but whether this syndrome should be regarded as a variant of eosinophilic leukemia or as a variant of systemic mastocytosis remains to be established.
Nodular lymphocyte predominant Hodgkin lymphoma is reported in 2 siblings with onset at the age of 47 in a woman of Indian ethnic origin and at the age of 52 in her younger brother. Although some cases of familial Hodgkin lymphoma can be related to inherited characteristics and others to Epstein-Barr virus infection, this is not so for familial nodular lymphocyte predominant Hodgkin lymphoma for which the aetiology and reason for the familial occurrence remain unknown.
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As well as six 'normal' haemoglobins that occur at various stages of development, more than 800 abnormal or variant haemoglobins have been described. Many of these variant haemoglobins have no significant clinical consequences apart from causing confusion to clinicians and in laboratories; however, some of the variant haemoglobins result in major morbidity or mortality. The laboratory challenge is to detect these clinically significant haemoglobins and to identify them with sufficient accuracy for clinical purposes, as well as to quantitate both these and the 'normal' haemoglobins. The techniques used to detect and quantitate these haemoglobins in routine service laboratories are discussed in detail. Methods used by referral laboratories, such as mass spectrometry and DNA analysis, are briefly discussed. Haemoglobin analysis is most often undertaken as part of neonatal, antenatal or pre-anaesthetic screening; these programmes are reviewed, together with possible changes to neonatal screening and antenatal screening that may occur as part of the NHS National Plan.