Significant haemoglobinopathies: A guideline for screening and diagnosis

Abstract

Disorders of globin chain synthesis, both thalassaemia and haemoglobin variants, are common in the United Kingdom and constitute a significant public health problem. Diagnosis may be required: (i) to confirm a provisional clinical diagnosis, such as sickle cell disease (SCD) or β thalassaemia major (now often referred to as transfusion-dependent thalassaemia or TDT); (ii) to explain a haematological abnormality, such as anaemia or microcytosis; (iii) to identify an abnormality in the presymptomatic phase, as in neonatal screening; (iv) to identify foetuses at risk of significant haemoglobinopathies and offer the parents informed choice; (v) to permit genetic counselling of prospective parents; (vi) to identify the presence of sickle cell haemoglobin preoperatively. Improved fully automated systems and reagents for techniques such as cation-exchange high-performance liquid chromatography (HPLC) and capillary electrophoresis

Spectrum of Beta-Thalassemia Mutations in Potential Carriers with Microcytic Hypochromic Anemia from Mazandaran and Golestan, Northern Provinces of Iran

“…Those who had reduced MCV (MCV ≤ 80 fl) or MCH (MCH ≤ 27 pg/cell) [23] were subjected to further study and referred to a local genetic laboratory as a routine national services [10]. Also, for the HbA2 level, concentration more than 3.5% was considered as beta-thalassemia carrier [10,24], and HbF hemoglobin normal level in adults is considered from 0.5% to 1.5% [24,25]. From 5425 microcytic and hypochromic people referred to "Novin Genetic Diagnostic Laboratory" during 2008 to 2021, 1323 persons were beta carrier or affected individuals, who were referred from Mazandaran or Golestan provinces (Table 1).…”

Sickle Cell Screening in Adults: A Current Review of Point-of-Care Testing

“…Outside of military and college athlete screening, the SCST is useful for rapid assessment of the presence of HbS. The British Society of Hematology states it is sensible to utilize the test in the emergency department or prior to anesthesia as a negative test will indicate that the concentration of HbS is low enough as to not increase intraoperative risk [ 37 ]. This is followed by the caveat that both positive or equivocal results should be followed by confirmatory testing.…”

Lessons learnt in the screening and diagnosis of haemoglobinopathies

“…Yvonne Daniel 1,2 | Joan Henthorn 2 presentation, testing strategies tend to be more exhaustive and may include family studies. 4 At birth, the predominant haemoglobin is HbF, while from early childhood the predominant haemoglobin is HbA, the composition of the primary haemoglobins are described in Table 2. At birth, beta-globin expression is relatively low and in an extremely premature baby may not be detectable.…”

“…9 Antenatal screening aims to detect women who are carriers of haemoglobins that could result in SCD and/or alpha and beta thalassaemia disease along with those with a significant condition. 4 For this paper, cases reported formally and anecdotally to the authors in their screening and diagnostic roles have been selected to demonstrate areas where errors have occurred, and caution should be exercised. The cases described represent a small minority of the work performed but are reported here to raise awareness of common themes and thus reduce the likelihood of recurrence.…”