Molecular and Hematological Analysis of Alpha- and Beta-Thalassemia in a Cohort of Mexican Patients

Rizo-de-la-Torre, L. C.; Rentería-López, Víctor Manuel; Sánchez-López, Josefina Yoaly; Magaña-Torres, María Teresa; Ibarra-Cortés, Bertha; Perea-Díaz, Francisco Javier

doi:10.1089/gtmb.2020.0276

Cited by 2 publications

(3 citation statements)

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“…G6PD mutation screening was performed in two stages: (a) amplification refractory mutation system polymerase chain reaction (ARMS-PCR) for identifying the most frequent G6PD deficiency variants (c.202G>A, c.376A>G, c.968T>C and c.542A>T) (Liese et al, 2000), and (b) Sanger sequencing (BigDye Terminator kit v3.1, SeqStudio Applied Biosystems, Foster City California USA) for rare or novel mutations in protein coding regions (exons 2-13). Patients with microcytosis were screened for the common α-thal mutations observed in Mexicans (Rizo-delaTorre et al, 2021). All experimental work reported here complied with laboratory health and safety procedures.…”

Section: Molecular Testingmentioning

confidence: 99%

“…In eight out of 12 patients with G6PD/Mic, an α-thal allele was identified. G6PD deficiency and α-thal are frequently observed in Mexicans (De-la-Cruz-Salcedo et al, 2016;Maldonado-Silva et al, 2018;Rizo-delaTorre et al, 2021), and both erythrocyte pathologies are commonly observed in malaria endemic regions due to a protective effect against P. falciparum infection (Lin et al, 2015). Several studies on the coexistence of G6PD deficiency and thalassemia have been performed.…”

Section: G6pd/micmentioning

confidence: 99%

“…The disease is widely variable, ranging from asymptomatic forms to severe microcytic hypochromic anemia (Farashi & Harteveld, 2018). α-thal is a frequent cause (68.6%) of microcytosis in the Mexican population (De-la-Cruz-Salcedo et al, 2016) and the most frequent variants are the worldwide distributed g.34164_37967del3804 (-α 3.7 ), HBA2:c.95+2_95+6delTGAGG (α Hph α) and HBA2:c.−59C>T (α −59C>T α) (Rizo-delaTorre et al, 2021).…”

Section: Introductionmentioning

confidence: 99%

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Hematological and molecular analysis of patients with G6PD deficiency revealed coexistent hereditary spherocytosis and alpha thalassemia

Herrera-Tirado

Hernández-Peña

Ibarra-Cortés

et al. 2021

Annals of Human Genetics

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Background: Glucose-6-phosphate dehydrogenase (G6PD) deficiency, hereditary spherocytosis (HS), and alpha thalassemia (α-thal) are frequent erythrocyte pathologies with different geographic distributions worldwide. Our aim is to report hematological and molecular findings of G6PD deficient Mexican patients in coinheritance with suggestive hereditary spherocytosis (sHS) and α-thal. Methods: We studied 78 G6PD deficiency patients. Hematological parameters, acidified glycerol lysis test, erythrocyte morphology, electrophoresis, and hemoglobin quantification were obtained. G6PD and HBA2/HBA1 variants were identified using ARMS-PCR, Gap-PCR, or Sanger sequencing.Results: Nine G6PD variants were identified; A -202A/376G , A -376G/968C , and A +376G as the most frequent. G6PD Santiago de Cuba 1339A and Kamiube 1387T were detected in Mexicans for first time. Hematological analysis revealed additional erythrocyte pathologies in 52 patients, 32 with positive osmotic fragility test and spherocytes in blood smear (suggestive hereditary spherocytosis, sHS), 12 with microcytosis and 8 with all three defects who had the most severe phenotype, with significantly lower hematological parameters (Hb, PCV, MCV, and MCH). α-thal variants (α Hph α, α -59C>T α and -α 3.7 ) were observed in 65% of patients with microcytosis. Conclusion:Additional erythrocyte defects were observed in 69.3% of G6PD deficiency patients. We stress the importance of searching for the presence of additional erythrocyte hereditary diseases in patients with G6PD deficiency.

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Section: Molecular Testingmentioning

confidence: 99%