Hunt for the Hidden Trait

Alwar, Vanamala; Kavdia, Reeti; Singh, Nandini; Rameshkumar, Karuna

doi:10.4103/0974-2727.54802

Cited by 3 publications

(2 citation statements)

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“…Ansari SH et al conducted a study in Karachi, reported 62.2% siblings are β-thalassemia carrier in first family members of the patients [26]. In Bangladesh β-thalassemia minor were 21.3% [27] and in India 57 out of 60 inspected cases on peripheral smears were found to have same type of thalassemia trait [28]. The patients of BTT can also develop ID and they need iron therapy but differentiation in both diseases is necessary for their respective management to avoid serious consequences of iron overload on one side and to exclude severe hemoglobinopathy in developing fetus/newborn.…”

Section: Biostatistics and Biometrics Open Access Journalmentioning

confidence: 99%

Frequency of Beta Thalassemia and Iron Deficiency Anemia in Moderate Anaemic Pregnant Patients Visiting to Tertiary Care

Zulfiqar¹

2017

BBOAJ

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Section: Biostatistics and Biometrics Open Access Journalmentioning

confidence: 99%

Frequency of Beta Thalassemia and Iron Deficiency Anemia in Moderate Anaemic Pregnant Patients Visiting to Tertiary Care

Zulfiqar¹

2017

BBOAJ

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“…Thalassemias, characterized by peripheral smear hypochromic microcytic anemia, are an autosomal recessive group of hematological diseases that result from the damaged structure of one or more of the hemoglobin chains 1 . Mutations in β-globin genes are the main factor in β-thalassemia 2 . Most often in βthalassemia, point mutations, small deletions or insertions into coding regions and exonintron junctions are found.…”

Section: Introductionmentioning

confidence: 99%

The Spectrum of β-Thalassemia Mutations in Batman, South-Eastern Turkey

Yilmaz

2020

Dicle Tıp Dergisi

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Objective: In this study, we aimed to determine the mutation types and the frequencies of these mutations in the patients with thalassemia in Batman province and to provide the use of these findings in genetic counselling. Methods: The study included 46 patients (27 male and 19 female) with a mean age of 9.5 ± 3.6 years (range: 3-16 years). In this study, mutations were determined by sequence analysis method. Results: 7 different mutations were detected in patients. IVS-I-110 (G>A) (56.25%), codon 44 (-C) del (16.25%), IVS-I-1 (G>A) (12.5%), IVS- II-1 (G>A) (6.25%) were the most common and they were found to constitute 91.25% of the cases. As in other regions of Turkey, IVI-1-110 (G >A) was the most frequent mutation detected. In this study; 28 mutant alleles including IVS-I-110 (G>A)/IVS-I-1 (G> A) (4), IVS-I-110 (G>A)/IVS-II-1 (G> A) (4), codon 8 (-AA) del/IVS-1-110 (G>A) (1), codon 8 (-AA) del/ codon 44 (-C)del (1), codon 15 (GG-GA)/codon 44 (-C) del (1), codon 44 (-C) del/IVS-I-1 (G> A) (1), codon 44 (-C) del/ IVS-II-1 (G> A) (1), codon 44 (-C)del/IVS-I-110 (G>A) (1) were found to have formed a compound heterozygous mutation. Among the β-thalassemia patients in Batman province, 29 (56.25%) were determined to have β⁺ mutation, and 26 (43.75%) had β° mutation. Conclusion: It is important that we, in our study, discovered IVS-II-1 (G>A) mutation compounded with heterozygous in five patients and codon 8 (-AA) del mutation as homozygous in one patient who presented a clinical manifestation of thalassemia intermedia despite having homozygous beta thalassemia. These results will contribute to genetic counseling and prenatal diagnosis.

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“Prevalence of Beta-Thalassemia Trait in Pregnant Women Attending Antenatal Clinic”

Jain¹,

Gupta²,

Sengar

2021

PIJR

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INTRODUCTION- Iron deficiency anemia and thalassemia syndromes,especially beta thalassemia trait (BTT),are the two most commonly ccuring microcytic hypochromic anemias highly prevalent in countries like India. Iron deficiency anemia is the first most common cause of anemia in pregnancy,beta thalassemia trait is the second most frequent cause of anemia of pregnancy. Patients with thalassemia trait shows an increased incidence of anemia during the second trimester of pregnancy. Beta Thalassemia Trait (BTT) patients are usually asymptomatic and ignorant of their carrier state unless diagnosed by testing. Screening for thalassemia can be done by measuring HbA2 levels MATERIAL AND METHOD- This is a retrospective study. The data were collected from a clinic and associated st pathology in Shivpuri and a private maternity hospital in Gwalior from 1 January 2019 to 30 June 2021.94 patients were included in the study.All pregnant women between the age of 18-45 years and at any gestational age with hemoglobin level <10g/dL and microcytic hypochromic anemia (report of CBC) were included in the study. High-Performance Liquid Chromatography (HPLC) and serum ferritin report were collected. RESULTS- In our study the most common age group in which the anemia was found between 19-35 years (80.85%).Most of the patients were primigravida (44.68%),between 26-37 wks of gestational age (82.97%),from a rural area (70.21%). Only 2 patients had a family history (2.12%) of beta-thalassemia and 6 patients had a history (6.38%) of blood transfusion. In our study moderate anemia was found in 55.31% of cases followed by mild anemia 25.53% and severe anemia 19.14%. In our study iron deficiency anemia was found in 87.23% only minor Beta-thalassemia was found to be 4.25%, of the patient,and the coexistence of iron deficiency anemia and beta-thalassemia in pregnant women is 8.51%. In our study total of 12 patients (4 cases of only minor beta-thalassemia and 8 cases of minor beta-thalassemia associated with IDA) The prevalence rate of beta-thalassemia in our study was 7.8%. CONCLUSION- the recommendation is to diagnose beta-thalassemia in pregnant patients is essential to give proper treatment.The screening of pregnant patients prevents unnecessary parental iron therapy and iron overload in case of anemia.further studies are needed in this field and less expensive and accurate methods should come in place.

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Hunt for the Hidden Trait

Cited by 3 publications

References 1 publication

Frequency of Beta Thalassemia and Iron Deficiency Anemia in Moderate Anaemic Pregnant Patients Visiting to Tertiary Care

Frequency of Beta Thalassemia and Iron Deficiency Anemia in Moderate Anaemic Pregnant Patients Visiting to Tertiary Care

The Spectrum of β-Thalassemia Mutations in Batman, South-Eastern Turkey

“Prevalence of Beta-Thalassemia Trait in Pregnant Women Attending Antenatal Clinic”

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