Confirmation of the validity of using birth MCV for the diagnosis of alpha thalassemia trait

Al-Hilali, Akram; Al-Jallaf, Aisha Khamis; Chunkasseril, Sajida M.

doi:10.4081/hr.2009.e20

Cited by 2 publications

(3 citation statements)

References 8 publications

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“…But since using these parameters is more readily available in most laboratories, they can be used for primary screening of thalassemia in newborns. On the other hand, these parameters are highly predictive when MCV < 90fL and MCH<30pg (21)(22)(23). The values of MCV and MCH are strongly affected by the number of α-genes, cases with one α gene deletion have slightly decreased of these parameters and can be overlapped with normal values (24).…”

Section: Discussionmentioning

confidence: 99%

“…So, by using these cut-off points (MCV<94 and MCH<30), a large number of cases are not detected. So it cannot be confidently said that there is clear demarcation of the level of MCV and MCH to find α-thalassemia (21). But since using these parameters is more readily available in most laboratories, they can be used for primary screening of thalassemia in newborns.…”

Section: Discussionmentioning

confidence: 99%

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Prevalence and molecular characterization of alpha-thalassemia among newborns in Ardabil Province

Fathi¹,

Damandan²,

Valizadeh³

et al. 2020

Electron. physician

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Background and objective: Alpha-thalassemia is one of the most recessively congenital hemoglobin disorders in the world, and is characterized by decreased or absence of alpha globin chains production. Although it has been suggested that the frequency of alpha-thalassemia in Iran is greater than worldwide, its exact rate is unknown. Due to lack of more studies on this topic in this area, the aim of the present study was to determine prevalence and molecular characterization of alpha-thalassemia among newborns in Ardabil Province. Methods: In this cross-sectional study, one thousand newborns were referred for screening of alpha thalassemia at a pediatric unit in Ardabil province between April 2016 and March 2018. Cases with Mean Corpuscular Volume (MCV) <100 fL and Mean Corpuscular Hemoglobin (MCH) < 33 pg were referred for serum Ferritin measurement, Hb electrophoresis and then genetic analysis. Collected data were analyzed by statistical methods such as number, percent and Mean±SD in SPSS version 21. Results:The prevalence of α-thalassemia in studied newborns was 3.3% in Ardabil province. The most common mutation was the 3.7 single gene deletions that were found in 42.4% (14 cases) of newborns with α-Thalassemia. Conclusions: Results showed that, the prevalence of α-thalassemia in Ardabil province was lower than the average rate for the country and the most common mutation was -α 3.7 /αα, which was similar to other places in Iran.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Prevalence and molecular characterization of alpha-thalassemia among newborns in Ardabil Province

Fathi¹,

Damandan²,

Valizadeh³

et al. 2020

Electron. physician

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show abstract

“…These commonly performed and inexpensive hematological parameters can be used as screening tools for α thalassemia in neonates. 12,13 The present study is an attempt to investigate newborn blood samples for a "genetic trait", suspected to have a disproportionately high prevalence of α thalassemia in the tribal community of the western part of India with the estimation of gene frequency.…”

Section: Introductionmentioning

confidence: 99%

High prevalence of alpha thalassemia in the tribal community of the western part of India! Reality or myth? Can simple hematology parameters; MCV and MCH act as screening tools at birth?

Dhanani,

Patel,

Vadodaria

et al. 2023

Int J Res Med Sci

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Background: The majority of adult tribal subjects in the western part of India, show microcytic hypochromic red cells, and borderline anemia with a normal iron profile, suggesting a high prevalence of thalassemia in this population. Methods: The current study was designed to perform qualitative (to screen for Hb Bart’s) and quantitative (to estimate percentage of Hb Bart’s) hemoglobin electrophoresis with modification of the method, to evaluate the prevalence of α thalassemia and to determine gene frequency of α+ thal gene. Furthermore, the present study also aimed to evaluate common hematology parameters like MCV and MCH as screening tools to suspect α thalassemia at birth. Results: Based on hemoglobin electrophoresis, the prevalence of α thalassemia in all its forms was found to be 66.66%. The estimated gene frequency for α+ thal was found to be 0.7453 and based on that, the extrapolated prevalence of α thalassemia was 93.52% (55.55% homozygous and 37.97% heterozygous). MCV<100 fl and MCH<31 pg were found to be reliable screening tools to predict α thalassemia at birth in full-term uncomplicated pregnancy. Conclusions: Tribal community in the western part of India bears a very high prevalence of α thalassemia, it’s a reality and not a myth. Simple hematological parameters like MCV (<100 fl) and MCH (<31 pg) measured at birth can prove to be cost-effective surrogate markers for α thalassemia. Large scale study using confirmatory genetic analysis is required to validate the findings.

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Confirmation of the validity of using birth MCV for the diagnosis of alpha thalassemia trait

Cited by 2 publications

References 8 publications

Prevalence and molecular characterization of alpha-thalassemia among newborns in Ardabil Province

Prevalence and molecular characterization of alpha-thalassemia among newborns in Ardabil Province

High prevalence of alpha thalassemia in the tribal community of the western part of India! Reality or myth? Can simple hematology parameters; MCV and MCH act as screening tools at birth?

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