Erythrocyte indices in a large cohort of β‐thalassemia carrier: Implication for population screening in an area with high prevalence and heterogeneity of thalassemia

Singha, Kritsada; Taweenan, Wachiraporn; Fucharoen, Goonnapa; Fucharoen, Supan

doi:10.1111/ijlh.13035

Cited by 15 publications

(15 citation statements)

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“…Guangxi [4], Sichuan [15] and the frequency of β-thalassemia reported were lower than that reported in Fujian [5], but higher than that in Guangdong [3], Guangxi [4] and Sichuan [15]. In addition, the frequencies obtained from this study were higher than that reported in other countries/regions of the world, such as the north of Southwest Iran [16], Thailand [17,7], and Laos [18] and lower than that reported in Pakistan [13].…”

Section: Discussioncontrasting

confidence: 73%

“…These ndings may be explained with the special location of Hainan Province which is located on a small island in southeast China. Comparing with other countries, the results are consistent with that in Thailand [7] but different from those in Pakistan [23], Syria [24], Iran [6], Vietnam [8] and India [25].…”

Section: Discussionsupporting

confidence: 60%

“…A huge variation of the spectrum of thalassemia gene mutations has been reported in different ethnic populations and related geographical regions. For example, the most common mutation of β-thalassemia in Northeastern Iranian is IVS-I-5 [6], which differs from CD41/42 found in Thailand [7] and CD26 in North Vietnam [8]. Even in any given country, the spectrum of thalassemia gene mutations is diverse in different geographical regions.…”

Section: Introductionmentioning

confidence: 99%

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Prevalence and molecular spectrum of α- and β-globin gene mutations in Hainan, China

et al. 2021

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Background: Thalassemia is one of the most prevalent inherited single gene diseases. Prevention of βthalassemia through prenatal diagnosis is the one of the most effective and direct approach to control the spread of this life-threatening disease. This study aims to determine the prenatal diagnosis of αthalassemia and β-thalassemia in 3049 families among eighteen regions of Hainan Province using molecular diagnosis.Methods: This study enrolled a total of 3049 couples and their fetuses at The First A liated Hospital of Hainan Medical University from January 2004 to March 2020. Genomic DNA was extracted from peripheral blood of the couples and villus, amniotic uid, or fetal cord blood of fetuses. DNA-based diagnosis was performed using polymerase chain reaction.Results: Here, the most commonly detected mutation of α-thalassemia was a South-East Asian deletion (31.53%), followed by -α 4.2 /αα (11.15%), -α 3.7 /αα (11.02%). The most common mutation for βthalassemia was CD41/42, followed by -28, accounting for 30.27% and 2.56%, respectively. The regions with the highest prevalence were the coastal regions and the regions with the lowest prevalence were Wenchang, Lingao and Ding'an. We also examined thalassemia gene mutations in Han people and other minority groups and found that the most common gene mutations in different ethnic were not homogeneous. Prenatal diagnosis showed 556 normal, 118 α-thalassemia hydrops and 161 βthalassemia major fetuses. Conclusion:Our ndings provide important information for clinical genetic counseling of prenatal diagnosis for thalassemia major in Hainan Province. Methods SubjectsThis study included pregnant women and their husbands who registered for a program of diagnosis of thalassemia at The First A liated Hospital of Hainan Medical University in Hainan Province between January 2004 and March 2020. All couples had resided in Hainan Province, and came from eighteen regions including Haikou,

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Section: Discussioncontrasting

confidence: 73%

Section: Discussionsupporting

confidence: 60%

Section: Introductionmentioning

confidence: 99%

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Prevalence and molecular spectrum of α- and β-globin gene mutations in Hainan, China

et al. 2021

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“…Mean corpuscular hemoglobin (MCH) is the amount of Hb per RBC and could be a better reflector of iron deficiency or an underlying thalassemia 4 . It has been recommended that both MCV and MCH should be used for thalassemia screening 5 . Mean corpuscular Hb concentration (MCHC) is the average Hb concentration per RBC.…”

Section: Introductionmentioning

confidence: 99%

Laboratory approach to investigation of anemia with a focus on pyruvate kinase deficiency

Agarwal

Rets

2020

Int J Lab Hematology

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Anemia is a major health burden worldwide and affects approximately one-third of world's population. It is not a diagnosis; it is a manifestation of an underlying pathophysiology leading to either decreased hemoglobin (Hb), hematocrit (Hct), or red blood cells (RBCs). Iron deficiency anemia is still the most common cause of anemia worldwide. The symptoms are usually due to the underlying compensatory responses to decrease in oxygen delivery to the tissues. Laboratory investigation should start with complete blood count (CBC), reticulocyte count (RC), and peripheral smear evaluation. Further testing depends on these indices, that is, iron parameters and hemoglobinopathies/thalassemia evaluation in microcytic hypochromic anemia, vitamin B12, and folic acid level in macrocytic anemia. Increased RC denotes adequate bone marrow response and points toward hemolytic process and vice versa. Anemia diagnosis can be complex and confusing for the practicing physician. This review tries to give a practical simplistic approach to the diagnosis, focusing mainly on the basic parameters, that is, CBC, RC, and peripheral smear etc. Moreover, we have also tried to provide an update on the pyruvate kinase deficiency, as there has been recent exciting development in the management of these patients. K E Y W O R D Sanemia, pyruvate kinase deficiency, reticulocytes

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“…Low red cell indices also occur in iron deficiency, complicating differentiation from haemoglobinopathy traits. Finally, red cell indices may be normal in carriers of unusually mild β-thalassaemia alleles and in HbE trait (Weatherall, 2001; Fucharoen et al, 2004; Sanchaisuriya et al, 2005; Galanelo, 2012; Singha et al, 2019) and in people who inherit more than one haemoglobinopathy trait (e.g., α-thalassaemia together with β-thalassaemia (Penman et al, 2015).…”

Section: Introductionmentioning

confidence: 99%

A “One-Stop” Screening Protocol for Haemoglobinopathy Traits and Iron Deficiency in Sri Lanka

Allen

Perera

et al. 2019

Front. Mol. Biosci.

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Introduction: The high frequencies of carriers of severe haemoglobinopathies and of iron deficiency in Southeast Asia require reliable and affordable tests to improve on current screening procedures. Objectives: We evaluate a “one stop” approach using the THALCON dichlorophenolindophenol (DCIP) and one-tube osmotic fragility (OF) tests and measurement of Zinc Protoporphyrin (ZPP) to detect and distinguish HbE and β-thalassaemia traits from iron deficiency. We compare findings with current screening practice in Sri Lanka that relies on the identification of low mean red cell volume and/or mean red cell hemoglobin for this purpose. Methods: Between November 2017 and May 2018, we undertook a cross-sectional survey of secondary school students in Gampaha district, Sri Lanka. The THALCON–DCIP and OF tests were compared to capillary electrophoresis (CE), used as a gold standard to detect haemoglobinopathies. ZPP was measured in whole blood. Plasma ferritin and C-reactive protein (CRP) were measured in students with a raised ZPP concentration. Results: We collected venous blood samples from 1,324/1,332 (99.4%) students. The median age of the students was 17 (IQR 16–18) years, all were Sinhalese and 814/1,324 (61.5%) were female. CE identified 3 students with HbE trait and 26 students with β-thalassaemia trait. The THALCON–DCIP test was positive only in the 3 students with HbE (sensitivity 100%, 95% CI 29.2–100.0; specificity 100%, 95% CI 99.7–100.0). The THALCON–OF test identified all 26 students with β-thalassaemia trait (sensitivity = 100%, 95% CI 86.8–100.0) and 287 students with a normal CE result (specificity = 77.9%; 95% CI 75.5–80.1). It was also positive in 2/3 (66.7%) students with HbE trait. Iron deficiency (ZPP > 70 μmol/mol heme) was present in 118/1,240 (9.5%) students with a normal hemoglobin genotype, all of whom had plasma ferritin <15 ng/ml and CRP <5 mg/L. Conclusion: This one–stop approach offers reliable and affordable population screening for both haemoglobinopathy traits and iron deficiency in resource-limited settings where these conditions are common and ensures that iron supplements are targeted only to those who require them. Further work is warranted to refine the OF test to reduce the number of false positive results.

show abstract

Erythrocyte indices in a large cohort of β‐thalassemia carrier: Implication for population screening in an area with high prevalence and heterogeneity of thalassemia

Cited by 15 publications

References 23 publications

Prevalence and molecular spectrum of α- and β-globin gene mutations in Hainan, China

Prevalence and molecular spectrum of α- and β-globin gene mutations in Hainan, China

Laboratory approach to investigation of anemia with a focus on pyruvate kinase deficiency

A “One-Stop” Screening Protocol for Haemoglobinopathy Traits and Iron Deficiency in Sri Lanka

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