Thalassemia carrier detection among pregnant women

Sahiratmadja, Edhyana; Seu, Merry M V; Nainggolan, Ita M.; Mose, Johanes C.; Panigoro, Ramdan

doi:10.4084/mjhid.2021.003

Cited by 3 publications

(2 citation statements)

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“…Concluíram que para o início de um tratamento pode ser utilizado o índice de Mentzer, porém na primeira possibilidade deve ser realizada uma eletroforese de hemoglobinas para comprovação de diagnóstico entre anemia ferropênica e beta-talassemia. 29 Sahiratmadja et al 30 publicaram uma carta científica sobre o uso de índices de detecção de talassemia em uma área com poucos recursos no leste da Indonésia.…”

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“…O estudo concluiu que os testes são bons para uso em locais com pouca infraestrutura para a diferenciação de beta-talassemia, mas que para outros tipos de talassemia, como a alfa, seriam necessários outros métodos de diagnóstico, como eletroforese de hemoglobinas ou análise de hemoglobina por HPLC. 30 Saxena e Jain 31 avaliaram o índice de Mentzer quanto a sua especificidade e sensibilidade, comprovando os resultados obtidos com um estudo de HPLC. Os autores relataram que o índice de Mentzer foi capaz de comprovar a presença de betatalassemia com uma sensibilidade de 89% e uma especificidade de 87,9% quando comparados a um exame com o uso de tecnologia HPLC.…”

Section: Discussionunclassified

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Índice de Mentzer como adjuvante no diagnóstico diferencial da talassemia beta heterozigota e anemia ferropriva

Pedro,

Araujo,

Bertoncelo

et al. 2023

Rev. Fac. Ciênc. Méd. Sorocaba

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O objetivo do presente estudo foi analisar o Índice de Mentzer como adjuvante no diagnóstico do traço talassêmico da beta-talassemia, visto que, na sua forma homozigota a talassemia beta possui clínica distinta da anemia ferropriva ou ainda do traço beta-talassêmico, culminando em uma anemia hemolítica com sintomas de hemólise excessiva cursando com esplenomegalia, anemia com deficiência de hemoglobina importante, hiperplasia de medula óssea e, em alguns casos, necessidade iminente de transfusão sanguínea. Trata-se de uma revisão integrativa sobre o índice de Mentzer. Procedeu-se uma revisão bibliográfica nas bases de dados eletrônicas PUBMED, SciELO e Periódicos CAPES entre 2016 e 2021. Foram incorporados no presente estudo 12 manuscritos a serem revisados os quais necessitavam relacionar o índice de Mentzer a diferenciação de traço de beta-talassemia de anemia ferropênica. Após leitura e análise dos artigos relacionados para este estudo mostrou-se que o índice de Mentzer pode ser recomendado para diferenciação entre as duas patologias com uma boa sensibilidade e especificidade para o traço relacionado a beta-talassemia, entretanto, em caso de dúvidas entre anemia ferropênica e beta-talassemia deve ser realizado um estudo com eletroforese de hemoglobinas. Portanto, conclui-se que na ausência da possibilidade da realização de uma eletroforese de hemoglobinas ou análise de hemoglobina por HPLC pode ser utilizado o índice de Mentzer para diferenciação entre anemia ferropênica e o respectivo traço beta-talassemico e início ao tratamento, contudo, cabe ressaltar que na ausência de resposta a terapia a eletroforese de hemoglobinas ou análise de hemoglobina por HPLC torna-se exame indispensável.

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Índice de Mentzer como adjuvante no diagnóstico diferencial da talassemia beta heterozigota e anemia ferropriva

Pedro,

Araujo,

Bertoncelo

et al. 2023

Rev. Fac. Ciênc. Méd. Sorocaba

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Cell-free fetal DNA as a non-invasive method using pyrosequencing in detecting beta-globin gene mutation: A pilot study from area with limited facilities in Indonesia

Maskoen

Rahayu²,

Laksono³

et al. 2022

Front. Pediatr.

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BackgroundThalassemia is a monogenic, autosomal recessive, inherited disorder of the red blood cells caused by mutations or deletions in the globin gene. Approximately 6–10% of the Indonesian population carries the β-globin gene mutation; however, premarital screening is rarely conducted, and antenatal screening is optional. We explored the use of cell-free fetal DNA (cffDNA) as a potential non-invasive method of detecting the fetal β-globin gene mutation prenatally in pregnant women.Materials and methodsPregnant mothers (n = 10), who were known carriers of thalassemia and who had a history of having borne a baby with thalassemia major, and their carrier husbands (n = 4) were recruited after providing consent. EDTA blood was drawn, and maternal DNA, including cffDNA, and paternal DNA were isolated. Maternal contamination tests were conducted using the variable number tandem repeat test for ApoB and D1S80 loci. Allele quantification was performed by pyrosequencing. Known mutations from the bio-archived DNA of patients with thalassemia major (n = 16) were run alongside as a control.ResultsIn total, 7 out of 10 cffDNA successfully passed the maternal contamination test. The results of the allele quantification showed that six fetuses were predictive carriers of IVS1nt5 and one was predictive normal, in line with the allele quantification for the bio-archived DNA from patients with thalassemia major. The minimum threshold percentage for mutant A allele at cd26 was 32%, mutant T allele at IVS1nt1 was 23%, and mutant C allele at IVS1nt5 was 39%.ConclusionTaking cffDNA from the mother’s blood proved useful as a non-invasive means of detecting the β-globin gene mutation using pyrosequencing allele quantification. This non-invasive method is of great interest for prenatal diagnosis in settings with limited facilities, as it minimizes the risk of abortion. Further study of other mutations of the β-globin gene is needed.

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Molecular and Haematological Characteristics of alpha-Thalassemia Deletions in Yogyakarta Special Region, Indonesia

Husna

Handayani

2021

rbmb.net

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Background: alpha-Thalassemia is caused primarily by deletions of one to two alpha-globin genes and is characterized by absent or deficient production of alpha-globin protein. The South-East Asia (SEA) deletion, 3.7-kb and 4.2-kb deletions are the most common causes. The present study aimed to observe the molecular characteristics of this common alpha-Thalassemia deletions and analyse its haematological parameter. Methods: Blood samples from 173 healthy volunteers from thalassemia carrier screening in Yogyakarta Special Region were used. Haematological parameters were analysed and used to predict the carrier subjects. Genotype of suspected carriers was determined using multiplex gap-polymerase chain reaction and its haematological parameters were compared. The boundary site of each deletion was determined by analysing the DNA sequences. Results: Seventeen (9.8%) of the volunteers were confirmed to have alpha-Thalassemia trait. Of these, four genotypes were identified namely -α 3.7 /αα (58.8%), -α 4.2 /αα (5.9%), -α 3.7 /-α 4.2 (5.9%) and --SEA /αα (29.4%). The 5′ and 3′ breakpoints of SEA deletion were located at nt165396 and nt184700 of chromosome 16, respectively. The breakpoint regions of 3.7-kb deletion were 176-bp long, whereas for 4.2-kb deletion were 321-bp long. The haematological comparison between normal and those with alpha-Thalassemia trait genotype indicated a significant difference in mean corpuscular volume (MCV) (p< 0.001) and mean corpuscular haemoglobin (MCH) (p< 0.001). As for identifying the number of defective genes, MCH parameter was more reliable (p= 0.003). Conclusions:The resultant molecular and haematological features provide insight and direction for future thalassemia screening program in the region.

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Thalassemia carrier detection among pregnant women

Cited by 3 publications

References 10 publications

Índice de Mentzer como adjuvante no diagnóstico diferencial da talassemia beta heterozigota e anemia ferropriva

Índice de Mentzer como adjuvante no diagnóstico diferencial da talassemia beta heterozigota e anemia ferropriva

Cell-free fetal DNA as a non-invasive method using pyrosequencing in detecting beta-globin gene mutation: A pilot study from area with limited facilities in Indonesia

Molecular and Haematological Characteristics of alpha-Thalassemia Deletions in Yogyakarta Special Region, Indonesia

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