2017
DOI: 10.1136/bmjopen-2016-013367
|View full text |Cite
|
Sign up to set email alerts
|

Haematological and electrophoretic characterisation of β-thalassaemia in Yunnan province of Southwestern China

Abstract: Objectivesβ-Thalassaemia is widely found in Southwestern China. Characterisation of β-thalassaemia can improve screening and prenatal diagnosis for at-risk populations.DesignA retrospective study.MethodsIn this study, the levels of haemoglobin alpha 2 (HbA2) and haemoglobin alpha (HbA) were analysed by gender for a total of 15 067 subjects screened by capillary electrophoresis. The cut-off value with the highest accuracy was established to identify β-thalassaemia in 723 patients suspected to have this disease.… Show more

Help me understand this report

Search citation statements

Order By: Relevance

Paper Sections

Select...
3
1

Citation Types

1
11
0

Year Published

2018
2018
2023
2023

Publication Types

Select...
6

Relationship

1
5

Authors

Journals

citations
Cited by 15 publications
(13 citation statements)
references
References 25 publications
1
11
0
Order By: Relevance
“…There are 15 variants were found to be “deleterious” by SIFT analysis and seven variants were predicted to be “damaging” by the PolyPhen-2 software prediction model. Some Hb variants such as Hb E, Hb J-Bangkok, and Hb New York had no apparent clinical effects reported by previous report 22,26,28 . And individual of δ-globin gene defects usually has no clinically meaningful problems for low concentration of Hb A 2 regardless of the results of prediction 9,11 .…”
Section: Discussionmentioning
confidence: 49%
See 1 more Smart Citation
“…There are 15 variants were found to be “deleterious” by SIFT analysis and seven variants were predicted to be “damaging” by the PolyPhen-2 software prediction model. Some Hb variants such as Hb E, Hb J-Bangkok, and Hb New York had no apparent clinical effects reported by previous report 22,26,28 . And individual of δ-globin gene defects usually has no clinically meaningful problems for low concentration of Hb A 2 regardless of the results of prediction 9,11 .…”
Section: Discussionmentioning
confidence: 49%
“…So far, the Hb E, HB New York, Hb J-Bangkok, and Hb Queens variants have been the most popular mutations in the Yunnan population. The Hb E, Hb Queens, Hb Q-Thailand, Hb Thailand, Hb J-Bangkok, and Hb J-Lome variants have been mainly prevalent in the Southeastern Asia and Southern China regions 2227 . The Hb New York variant can be found in Chinese and American subjects 28 , while the Hb J-Kaohsiung variant has been mostly encountered in Thailand and Chinese populatons 29 .…”
Section: Discussionmentioning
confidence: 99%
“…This is not a big problem in the β‐thalassemia diagnosis for adults. Because Hb A2 (whether normal or abnormal) will not exceed 8%, it is not difficult to indentify Hb E when there is a peak located in the area of Hb A2 with the percentage higher than 8%. But as shown in Table , while the specimen was from a fetus or a newborn or a young baby and analyzed by Helena V8, percentage of the peak located in the area of Hb A2 might higher than reference but might not exceed 8%, even not exceed 7%.…”
Section: Discussionmentioning
confidence: 99%
“…southern China is an area suffers from thalassemia heavily where very high thalassemia gene frequencies can be identified in many provinces, for example 0.01%‐3.17% (α‐thalassemia) and 1.60%‐3.56% (β‐thalassemia) of the population in Sichuan, 3.18%‐9.46% (α‐thalassemia) and 1.60%‐3.56% (β‐thalassemia) in Guangdong and 9.47%‐14.13% (α‐thalassemia) and 3.57%‐6.78% (β‐thalassemia) in Guangxi, etc. In these territories, instead of Hb S which is the most common variant in Europeans and Americans, Hb E and Hb Constant Spring (Hb CS) become the top 2 variants related to β gene abnormity, together with Hb H and/or Hb Barts which are related to α gene abnormity, and form the most essential group of variants which should be identified carefully during hemoglobinopathy screening in southern China . This situation requires methods or instruments used in southern China having the ability to identify trace peaks and distinguish abnormal peaks from normal peaks.…”
Section: Introductionmentioning
confidence: 99%
See 1 more Smart Citation