scholarly journals A novel SUPT5H variant associated with a beta‐thalassaemia trait

2021 ◽  
Author(s):  
Theo Charnay ◽  
Mathieu Cerino ◽  
Katia Gonnet ◽  
Nathalie Bonello‐Palot ◽  
Marie‐Pierre Bréchard ◽  
...  
Keyword(s):  
Beta Thalassaemia ◽  
Thalassaemia Trait

scholarly journals Screening for hemoglobinopathies in a socially disadvantaged population from a rural district of West Bengal, India

2020 ◽  
Vol 8 (12) ◽  
pp. 4430
Author(s):  
Prakas Kumar Mandal ◽  
Tuphan Kanti Dolai ◽  
Soma Mandal ◽  
Tamanash Mondal ◽  
Suman Kumar Maji
Keyword(s):  
West Bengal ◽  
Sickle Cell Trait ◽  
Venous Blood ◽  
Rural District ◽  
Compound Heterozygous ◽  
Reference Laboratory ◽  
General Category ◽  
Beta Thalassaemia ◽  
Thalassaemia Trait ◽  
Scheduled Castes

Background: Detection of traits/carriers plays an important role in preventing the birth of a thalassemic child. West Bengal, one of the eastern states in India is the home to a bulk of socially challenged population including scheduled castes and scheduled tribes among others. The present study aimed to detect the prevalence of different hemoglobinopathies in a socially challenged district of West Bengal.Methods: In this retrospective cross sectional study thalassemia detection camps were organized at the community level over a period of four years. Venous blood samples were subjected to complete hemogram and high performance liquid chromatography (HPLC). In few difficult cases samples were sent to the reference laboratory for molecular characterization. The prevalence of heterozygous, homozygous or compound heterozygous states of different thalassemias and hemoglobinopathies across various respondent groups (e.g. children, premarital, postmarital and antenatal) and existing caste categories (scheduled tribes, scheduled caste and general) were analyzed.Results: We analyzed a total of 114,606 HPLC reports; 18681 (16.30%), 15438 (13.47%) and 80487 (70.23%) cases belonged to scheduled tribes, scheduled castes and general category respectively. Out of 114,606 cases, 11,001 (9.6%) had revealed abnormal hemoglobins; beta thalassaemia trait was the most common (6.63%; n=7602) across all subgroup analysis. Among others, HbE trait, sickle cell trait and HbD trait were detected in 1788 (1.56%), 1362 (1.18%) and 126 (0.11%) cases respectively.Conclusions: Beta thalassaemia trait and HbE trait are the common haemoglobin variants in this rural district of West Bengal. The prevalence of sickle gene revealed in the present study is much less than previous studies in the locality.

Beta-Thalassaemia Trait: Imprecision of Diagnosis at Birth

1978 ◽  
Vol 38 (3) ◽  
pp. 323-327 ◽  
Author(s):  
B. P. Alter
Keyword(s):  
Beta Thalassaemia ◽  
Thalassaemia Trait

scholarly journals An analysis of relative costs and potential benefits of different policies for antenatal screening for beta thalassaemia trait and variant haemoglobins

1999 ◽  
Vol 52 (9) ◽  
pp. 697-700 ◽  
Author(s):  
L. Phelan ◽  
B. J. Bain ◽  
D. Roper ◽  
C. Jury ◽  
K. Bain
Keyword(s):  
Antenatal Screening ◽  
Beta Thalassaemia ◽  
Thalassaemia Trait ◽  
Potential Benefits

scholarly journals Effect of alpha thalassaemia trait and enhanced gamma chain production on disease severity in beta thalassaemia major and intermedia.

1994 ◽  
Vol 70 (1) ◽  
pp. 30-34 ◽  
Author(s):  
P Gringras ◽  
B Wonke ◽  
J Old ◽  
A Fitches ◽  
D Valler ◽  
...  
Keyword(s):  
Disease Severity ◽  
Thalassaemia Major ◽  
Gamma Chain ◽  
Beta Thalassaemia ◽  
Thalassaemia Trait ◽  
Alpha Thalassaemia

Reticulocyte parameters of delta beta thalassaemia trait, beta thalassaemia trait and iron deficiency anaemia

2015 ◽  
Vol 69 (2) ◽  
pp. 149-154 ◽  
Author(s):  
Diego Velasco-Rodríguez ◽  
Juan-Manuel Alonso-Domínguez ◽  
Fernando-Ataúlfo González-Fernández ◽  
Jesús Villarrubia ◽  
María Sopeña ◽  
...  
Keyword(s):  
Iron Deficiency ◽  
Iron Deficiency Anaemia ◽  
Deficiency Anaemia ◽  
Beta Thalassaemia ◽  
Thalassaemia Trait

scholarly journals Serum ferritin levels in beta-thalassaemia trait.

BMJ ◽  
1976 ◽  
Vol 2 (6041) ◽  
pp. 920-920 ◽  
Author(s):  
S Hussein ◽  
A V Hoffbrand ◽  
M Laulicht ◽  
B Attock ◽  
E Letsky
Keyword(s):  
Serum Ferritin ◽  
Beta Thalassaemia ◽  
Thalassaemia Trait

scholarly journals IRON DEFICIENCY AND THALASSAEMIA

2018 ◽  
Vol 25 (12) ◽  
pp. 1863-1868
Author(s):  
Asma Shaikh ◽  
Nadeem Nusrat ◽  
Muhammad Akbar Agha ◽  
Asma Shabbir
Keyword(s):  
Iron Deficiency ◽  
Vitamin B12 ◽  
Mean Corpuscular Volume ◽  
Complete Blood Count ◽  
Vitamin B12 Deficiency ◽  
Reference Laboratory ◽  
Corpuscular Volume ◽  
Beta Thalassaemia ◽  
Thalassaemia Trait ◽  
B12 Deficiency

Objectives: To study the importance of normal or low mean corpuscular volume in vitamin B12 deficiency due to co-existence of iron deficiency or beta thalassaemia trait masking a rise in mean corpuscular volume. Study Design: Observational non-probability cross sectional study. Setting: DDRRL. Period: January 2014 to September 2014. Methods: 105 vitamin B12 deficient cases (vitamin B12 less than 200ng/l) who presented with normal or low mean corpuscular volume (MCV less than 95 fl) on complete blood count (CBC) were determined from Dow diagnostic research and reference laboratory (DDRRL). Serum ferritin, red blood cell folate (RBC Folate) level and Hemoglobin electrophoresis for beta thalassaemiatrait were analysed in these patients. Results: Total of 105 vitamin B12 deficient patients who fulfilled the inclusion criteria were enrolled in this study from which 39 (37.14%) were male and 66 (62.85%) were females. Amongst them 36.19% had microcytosis with the mean age of 37±16.2 years while 63.8% were normocytic with mean age of 41.58±15.65 years. In microcytic group, iron deficiency, beta thalassaemia trait, combined deficiency of B12, iron and beta thalassaemia trait and RBC folate deficient were 52.6%,34.21%, 7.8% and 2.63% respectively. In normocytic group, iron deficiency, beta thalassaemia trait and RBC Folate deficient were 13.4%, 00% and 11.9% respectively. Conclusion: There is a significant coexistent frequency of iron deficiency and beta thalassaemia trait in vitamin B12 deficiency with normal or low MCV especially in females of 20-40 years of age. There should be a high index of suspicion for B12 deficiency when investigating anaemia with normal or altered red cell indices.

scholarly journals Study of blood indices and high performance liquid chromatography (HPLC) in differentiation of β-thalassemia trait and iron deficiency anaemia

2017 ◽  
Vol 5 (11) ◽  
pp. 4728 ◽  
Author(s):  
Pravin M. Meshram ◽  
Hemant R. Kokandakar ◽  
Rajan S. Bindu
Keyword(s):  
Iron Deficiency ◽  
Iron Deficiency Anemia ◽  
Iron Deficiency Anaemia ◽  
Deficiency Anemia ◽  
Beta Thalassemia ◽  
Deficiency Anaemia ◽  
Beta Thalassaemia ◽  
Thalassaemia Trait ◽  
Patient Groups ◽  
Thalassemia Trait

Background: Iron deficiency anemia (IDA) and beta thalassaemia trait (BTT) are two of the most common causes of microcytic anemia.It is essential to differentiate between the two, so as to avoid unnecessary iron therapy which is contraindicated in beta thalassaemia .We retrospectively evaluated the reliability of various indices for differential diagnosis of microcytosis and 𝛽-TT in the same patient groups .Methods: A total of 200 patients were evaluated. We calculated 6 discrimination indices in all patients with anemia or suspected beta thalassemia. None of the subjects had  combined  IDA and 𝛽-TT. The patient groups were evaluated according to  the Mentzer, Shine and Lal, England and Fraser,Srivastava, Green and King, Ricerca.Results: According to percentage correctly diagnosed criteria, Ricerca  and Mentzer  index are considered as the two best discrimination indices in differentiation between β thalassemia trait  and iron deficiency anaemia .Youden’s index showed the following ranking with respect to the indices’ ability to distinguish between 𝛽-TT and IDA, Ricerca index >  Mentzer index > Green and King index >  Srivastava index >  Shine and Lal index > England and Fraser index.Conclusions: Ricerca  and Mentzer  index are considered as the two best discrimination indices in differentiation between β thalassemia trait  and iron deficiency anaemia.Keywords: Iron deficiency anemia (IDA) and beta thalassaemia trait (𝛽-TT) 

scholarly journals Red cell parameters, HbA2 levels, and the best discrimination index in beta thalassaemia trait in Sri Lanka

2021 ◽  
Vol 52 (1) ◽  
pp. 13
Author(s):  
K. H. B. P. Fernandopulle ◽  
H. M. J. P. Herath ◽  
L. D. Udawatta ◽  
P. M. N. K. Senarathna
Keyword(s):  
Sri Lanka ◽  
Discrimination Index ◽  
Red Cell ◽  
Cell Parameters ◽  
Beta Thalassaemia ◽  
Thalassaemia Trait

scholarly journals Value of discrimination indices in screening of beta thalassaemia trait

1970 ◽  
Vol 25 (1) ◽  
pp. 14-17
Author(s):  
Ayatun Nesa ◽  
Sk Farhad Munir ◽  
Tuhin Sultana ◽  
Md Quddusur Rahman ◽  
Mohammed Shohel Shomik ◽  
...  
Keyword(s):  
Key Words ◽  
Beta Thalassaemia ◽  
Thalassaemia Trait

Key words: Beta thalassaemia; discrimination indicesDOI: 10.3329/bjpath.v25i1.4126Bangladesh J Pathol 25(1): 14-17

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