Prevalence of Alpha Thalassemia in Microcytic Anemia: A Tertiary Care Experience From North India

Sharma, Monica; Pandey, Sanjay Kumar; Ranjan, Ratnesh; Seth, Tulika; Saxena, Renu

doi:10.4084/mjhid.2015.004

Cited by 9 publications

(12 citation statements)

References 32 publications

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“…The severe microcytosis and hypochromasia that is reported here might also be due to a coinheritance of the α 3.7 allele with other deletion type or point mutation, such as AC deletion in vicinity of the initiation codon of the − α 3.7 allele [29]. RDW_CV of the − α 3.7 heterozygous group revealed anisopoikilocytosis, in adult males and females, while in children showed mild anisopoikilocytosis, this finding is consistent with previous studies [27,30,31].…”

Section: Discussionsupporting

confidence: 93%

“…This was previously reported [14], where alpha thalassemia trait patients were characterized by slight reduction in haemoglobin level. The MCV and MCH showed microcytosis and hypochromasia in adults, and this finding is consistent with many previous studies concerning the contribution of alpha thalassemia to microcytosis and hypochromia [20][21][22][23][24][25][26][27], while others [14,28] reported slight microcytosis and hypochromasia or sometimes normal with alpha thalassemia trait. Unlike many other similar studies that have examined the red cell indices in alpha thalassaemia, present cohort showed significantly lower MCV (52-53 fL) giving an impression of additional pathology.…”

Section: Discussionsupporting

confidence: 92%

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Prevalence of 3.7 and 4.2 deletions in Sudanese patients with red cells hypochromia and microcytosis

et al. 2020

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Objective: Alpha-thalassemia is a genetic disorder characterized by deletions of one or more α globin genes that result in deficient of α globin chains reducing haemoglobin concentration. The study aimed to screen 97 patients with microcytosis and hypochromasia for the 3.7 and 4.2 alpha thalassemia deletion mutations. Results:Out of 97 patients screened, only 7 were carriers for the 3.7 deletion and all patients were negative for the 4.2 deletion. The 3.7 deletion was found in Foor, Hawsa and Rezagat Sudanese tribes. In the carriers of the 3.7 deletion, Red Blood Cells and Haematocrit were significantly increased. The Red Blood Cells were 7.23 ± 0.78 × 10 12 /L in adult males and 7.21 ± 0.67 × 10 12 /L in adult females while in children were 5.07 ± 0.87 × 10 12 /L. The mean cell volume and mean cell haemoglobin were significantly decreased, but the mean cell haemoglobin concentration slightly decreased. Haemoglobin levels didn't revealed statistically significant decrease in adult males (11.7 ± 0.57 g/dL) and adult females (11.25 ± 0.64 g/dL), while in children were (11.6 ± 2.95 g/dL). Haemoglobin electrophoresis revealed two patients of the 3.7 and 4.2 negative were carriers for β-thalassemia. The study concluded that α 3.7 deletion has frequency of 0.07 in Sudanese with hypochromasia and microcytosis. Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

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Section: Discussionsupporting

confidence: 93%

Section: Discussionsupporting

confidence: 92%

Prevalence of 3.7 and 4.2 deletions in Sudanese patients with red cells hypochromia and microcytosis

et al. 2020

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“…This was previously reported (15) , where alpha thalassemia trait patients were characterized by slight reduction in haemoglobin level. The MCV and MCH showed microcytosis and hypochromasia in adults, and this finding is consistent with many previous studies concerning the contribution of alpha thalassemia to microcytosis and hypochromia (21,23,24,25,26,27,28,29) , while others (15,22) reported slight microcytosis and hypochromasia or sometimes normal with alpha thalassemia trait. The microcytosis and hypochromasia that reported in the current study might be due to a coinheritance of the α 3.7 allele with other deletion type or point mutation, such as AC deletion in vicinity of the initiation codon of the -α 3.7 allele.…”

Section: Discussionsupporting

confidence: 92%

Prevalence of 3.7 and 4.2 Deletions in Sudanese Patients with Red Cells Hypochromia and Microcytosis

Osman

Hamid

Ahmad³

et al. 2020

Preprint

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Objective: Alpha-thalassemia is a genetic disorder characterized by deletions of one or more α globin genes that result in deficient of α globin chains reducing haemoglobin concentration. The study aimed to screen 97 patients with microcytosis and hypochromasia for the 3.7 and 4.2 alpha thalassemia deletion mutations. Results: Out of 97 patients screened, only 7 were carriers for the 3.7 deletion and all patients were negative for the 4.2 deletion. The 3.7 deletion was found in Foor, Hawsa and Rezagat Sudanese tribes. In the carriers of the 3.7 deletion, Red Blood Cells and Haematocrit were significantly increased. The Red Blood Cells were 7.23±0.78×10 12 /L in adult males and 7.21±0.67×10 12 /L in adult females while in children were 5.07±0.87×10 12 /L. The mean cell volume and mean cell haemoglobin were significantly decreased, but the mean cell haemoglobin concentration slightly decreased. Haemoglobin levels didn’t revealed statistically significant decrease in adult males (11.7±0.57 g/dL) and adult females (11.25±0.64 g/dL), while in children were (11.6±2.95 g/dl). Haemoglobin electrophoresis revealed two patients of the 3.7 and 4.2 negative were carriers for b-thalassemia. The study concluded that α 3.7 deletion has frequency of 0.07 in Sudanese with hypochromasia and microcytosis.

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“…ese results have high impact in the clinic medicine, since these hematological data are often interpreted as indicators of iron deficiency [25,26].…”

Section: Resultsmentioning

confidence: 99%

Deletional Alpha-Thalassemia Alleles in Amazon Blood Donors

Anselmo

Ferreira

Mota

et al. 2020

Advances in Hematology

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Alpha-thalassemia is highly prevalent in the plural society of Brazil and is a public health problem. There is limited knowledge on its accurate frequency and distribution in the Amazon region. Knowing the frequency of thalassemia and the prevalence of responsible mutations is, therefore, an important step in the understanding and control program. Hematological and molecular data, in addition to serum iron and serum ferritin, from 989 unrelated first-time blood donors from Amazonas Hemotherapy and Hematology Foundation (FHEMOAM) were collected. In this study, the subjects were screened for −α3.7/4.2/20.5, −SEA, −FIL, and −MED deletions. Alpha-thalassemia screening was carried out between 2016 and 2017 among 714 (72.1%) male and 275 (27.9%) female donors. The aims of this analysis were to describe the distribution of various alpha-thalassemia alleles by gender, along with their genotypic interactions, and to illustrate the hematological changes associated with each phenotype. Amongst the patients, 5.35% (n = 53) were diagnosed with deletion –α−3.7 and only one donor with α−4.2 deletion. From the individuals with –α−3.7, 85.8% (n = 46) were heterozygous and 14.20% (n = 7) were homozygous. The frequency of the –α−3.7 deletion was higher in male (5.89%) than in female (4.0%). There is no significant difference in the distribution of –α−3.7 by gender (p=0.217). The –α20.5, −SEA, and −MED deletions were not found. All subjects were analyzed for serum iron and serum ferritin, with 1.04% being iron deficient (n = 5) and none with very high levels of stored iron (>220 µg/dL). Alpha-thalassemia-23.7kb deletion was the most common allele detected in Manaus blood donors, which is a consistent result, once it is the most common type of α-thalassemia found throughout the world. As expected, the mean of hematological data was significantly lower in alpha-thalassemia carriers (p<0.001), mainly homozygous genotype. Leukocytes and platelet count did not differ significantly. Due to the small number of individuals with iron deficiency found among blood donors, the differential diagnosis between the two types of anemia was not possible, even because minor changes were found among hematological parameters with iron deficiency and α-thalassemia. Despite this, the study showed the values of hematological parameters, especially MCV and MCH, are lower in donors with iron deficiency, especially when associated with α-thalassemia, and therefore, it may be useful to discriminate different types of microcytic anaemia. In conclusion, we believed screening for thalassemia trait should be included as part of a standard blood testing before blood donation. It should be noted that this was the first study to perform the screening for alpha deletions in blood donors from the Manaus region, and further studies are required to look at the effects of donated thalassemic blood.

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Prevalence of Alpha Thalassemia in Microcytic Anemia: A Tertiary Care Experience From North India

Cited by 9 publications

References 32 publications

Prevalence of 3.7 and 4.2 deletions in Sudanese patients with red cells hypochromia and microcytosis

Prevalence of 3.7 and 4.2 deletions in Sudanese patients with red cells hypochromia and microcytosis

Prevalence of 3.7 and 4.2 Deletions in Sudanese Patients with Red Cells Hypochromia and Microcytosis

Deletional Alpha-Thalassemia Alleles in Amazon Blood Donors

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