Objective And Importance: To describe two novel hemoglobin mutations that resulted in an unstable hemoglobin with a severe hemolytic phenotype.
Clinical Presentation: A patient with an unstable hemoglobin and chronic hemolysis underwent splenectomy at age 15, subsequently developing chronic thrombo-embolic pulmonary hypertension at age 27 that was ultimately fatal.
Intervention: DNA sequencing of the alpha globin gene revealed heterozygous inheritance of Hb Taybe, arising from a novel mutation in the HBA2 gene and Hb Bridlington, a novel HBA1 mutation.
Aim: There are limited published data on the performance of the percentage of haemoglobin A (Hb A) as a screening test for beta thalassaemia major in the newborn period. This paper aims to analyse data derived from a national newborn bloodspot screening programme for sickle cell disease on the performance of haemoglobin A (Hb A) as a screening test for beta thalassaemia major in the newborn period.
Methods: Newborn bloodspot sickle cell screening data from 2,288,008 babies were analysed.
Objectives: This paper reports early screening results from the newborn sickle cell disease screening programme recently implemented in England.
Setting: England. Screening is offered at 5-8 days of age as part of the existing bloodspot test and offered to all babies irrespective of ethnicity.
A novel beta chain variant found in combination with beta(0)-thalassemia (thal) was identified in a male infant by electrospray ionization mass spectrometry (ESI-MS). Analysis of the infant's denatured blood and a 30 min. tryptic digest of his blood identified the mutation as beta56(D7)Gly-->Cys, which was confirmed by tandem mass spectrometry (MS/MS).
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