Unstable haemoglobin variant Hb Leiden is detected on Sysmex XN-Series analysers

2018 ◽  
Vol 56 (9) ◽  
pp. e249-e250 ◽  
Author(s):  
Wesley Jongbloed ◽  
Gitte van Twillert ◽  
Margreet Schoorl ◽  
Roger K. Schindhelm
Keyword(s):  
2016 ◽  
pp. bcr2015213615
Author(s):  
Francisco Abecasis ◽  
Inês Marques ◽  
Celeste Bento ◽  
Anabela Ferrão

1987 ◽  
Vol 67 (2) ◽  
pp. 221-223 ◽  
Author(s):  
Y. T. Zeng ◽  
Z. R. Ren ◽  
M. J. Chen ◽  
J. Q. Zhao ◽  
X. K. Qiu ◽  
...  
Keyword(s):  

Author(s):  
Abhay A Bhave ◽  
Lakshmi Iyer ◽  
Nawal Kazi ◽  
Manju Gorivale ◽  
Anita Nadkarni

High oxygen affinity haemoglobin variants are rare and often underdiagnosed in persistent erythrocytosis with no apparent aetiology. Here the author present a 29-year-old Indian male patient with a long-standing history of erythrocytosis which was incidentally detected. The proband had a prothrombotic family history of cerebral vessel stroke in his paternal grandfather at a young age and unexplained erythrocytosis in his father and brother. A review of his haemograms showed persistent high haemoglobin values. Routine tests did not reveal any specific aetiology and haemoglobin electrophoresis by High-Performance Liquid Chromatography (HPLC) showed absence of any abnormal peak or unstable haemoglobin. DNA sequencing of the β globin gene revealed heterozygosity for codon 20 {GTG→ATG, Valine (Val)→ Methionine (Met)} mutation confirming the presence of an electrophoretically silent Hb variant - Haemoglobin Olympia in him and his extended family members. This case study emphasises importance of this rare entity of high oxygen affinity haemoglobin variant as a differential diagnosis while screening for erythrocytosis. This is the first case report of Haemoglobin Olympia from India reported in the literature.


BMJ Open ◽  
2020 ◽  
Vol 10 (7) ◽  
pp. e035735
Author(s):  
Gabriela Amstad Bencaiova ◽  
Franziska Geissler ◽  
Irene Hoesli

PurposeThe pregnancy cohort was established to examine the prevalence and variety of haemoglobinopathies in a high-risk group of pregnant women.ParticipantsThe pregnancy cohort is located in the Department of Obstetrics and Antenatal Care, University Hospital of Basel. The pregnant women were recruited in the first trimester between June 2015 and May 2019. Family origin questionnaires were used to screen pregnant women for the risk of a haemoglobin variant. Based on the questionnaire, pregnant women were divided into two groups: women with a high risk and women with a low risk of a haemoglobin variant. In women with a high risk, red blood cell indices, iron status and chromatography were conducted.Findings to date1785 pregnant women were recruited. Out of the 1785 women, 929 were identified as a part of the high-risk group. Due to the missing data of 74 pregnant women with a high risk, the final analysis was conducted in the remaining 855 women. The prevalence of haemoglobinopathies in the high-risk group was 14.5% (124/855).Future plansThis cohort will be used to: (1) implement the screening in prenatal care in Basel; (2) recommend the screening among pregnant women with a high risk of a haemoglobin variant in Switzerland; (3) improve prenatal and neonatal care in patients with a haemoglobin variant; (4) examine adverse pregnancy outcomes in women with a haemoglobin variant and (5) reduce maternal and neonatal morbidity and mortality in the future.Trial registration numberClinicalTrials.gov Registry (NCT04029142).


2011 ◽  
Vol 879 (28) ◽  
pp. 2952-2956 ◽  
Author(s):  
Emmanuel Bissé ◽  
Agnès Hovasse ◽  
Sabine Preisler-Adams ◽  
Thomas Epting ◽  
Oswald Wagner ◽  
...  

Author(s):  
H. Kamuzora ◽  
H. Lehmann ◽  
K. D. Griffiths ◽  
Jillian R. Mann ◽  
D. N. Raine

An abnormal haemoglobin, which on paper electrophoresis has the mobility of Hb J, has been found in two brothers and, in the heterozygous state at least, is not associated with serious clinical abnormality. The structure of this hitherto unreported haemoglobin is α 120 (H3) Ala → Glu and it is named Haemoglobin J Birmingham.


Nature ◽  
1962 ◽  
Vol 193 (4822) ◽  
pp. 1298-1300 ◽  
Author(s):  
BARBARA H. BOWMAN ◽  
HARRIS MORELAND ◽  
ROSE G. SCHNEIDER
Keyword(s):  

2009 ◽  
Vol 5 (5) ◽  
pp. 353-360 ◽  
Author(s):  
E. Monn ◽  
P. J. Gaffney ◽  
H. Lehmann
Keyword(s):  

Sign in / Sign up

Export Citation Format

Share Document