Pattern of haemoglobin phenotypes in newborn infants at the national hospital abuja using high performance liquid chromatography

Mohammed-Nafi’u, R.; Audu, Lamidi Isah; Ibrahim, Mohammed; Wakama, Tamunomieibi; Okon, E J

doi:10.4103/npmj.npmj_39_20

Cited by 5 publications

(3 citation statements)

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“…26 This drastically limits our knowledge of the Hb variants present in our population. Recent studies however have shown HPLC as the method of choice for quantifying haemoglobin variants and because of its reliability and reproducibility of results has replaced alkaline electrophoresis as primary screening forhaemoglobinopathies 8,26,27,28 in some parts of the country. The result of this study lend evidence in support of the use of HPLC as a screening tool for haemoglobinopathies at least at point of care.…”

Section: Discussionmentioning

confidence: 99%

Validation of Self-Reported Parental Sickle Cell Status

Chizoma¹,

A²,

U³

2023

IJCRR

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Introduction: Parents with heterozygous sickle cell status [haemoglobin AS (HbAS) or sickle cell trait (SCT)] may produce sickle cell anaemia (SCA) patients. Proper diagnosis and correct reporting of sickle cell status is, therefore, necessary to guide genetic counselling of prospective partners/parents. However, misreporting of SCD status is common in adult population leading to increase disease incidence. Self-reported sickle cell status may be validated by comparing the reports with more reliable and more sensitive diagnostic methods such as high-performance lipid chromatography (HPLC) if not genetic studies. Aims/Objectives: To determine the accuracy of self-reported parental genotype status by comparing self-reported and HPLC-determined genotypes. Methodology: This was a hospital-based, cross-sectional analytical study. Participants were consecutively enrolled at clinic visits, socio-demographic as well as self-reported SCD status were obtained and documented in a pre-tested questionnaire, HPLC analysis of SCD status was conducted and documented. Data was anlyzed using Statistical Package for the Social Sciences (SPSS Version 21). Result: The post-marital reports were more sensitive, more accurate and had higher positive predictive value (all 100%) than the premarital reports. The premarital reports were more specific than sensitive and correctly predicted the truly positive (AS/AS) more than the truly negative (AA/AS, AA/AA) couples. The premarital reports were less accurate than the post marital reports. Conclusions: Post marital self-reports are more accurate than premarital reports. Knowledge of personal sickle cell status seems marred by poor access to proper diagnostic tools. HPLC is useful for ambiguous reports.

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Section: Discussionmentioning

confidence: 99%

Validation of Self-Reported Parental Sickle Cell Status

Chizoma¹,

A²,

U³

2023

IJCRR

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“…The second pathogenic variant can be another hemoglobin S allele or other Hb variants such as HbC (HBB GLU6LYS). The allele is caused when the Adenine base replaces Thymine in a missense mutation at the 6th position of the β-globin chain, resulting in a GAG to GTG codon change (Figure 1) (Ingram, 1957(Ingram, , 2004Lettre and Bauer, 2016 allele (HbSS) (Neel, 1949;Inusa et al, 2019;Mohammed-Nafi'u et al, 2020), resulting in a severe form of the disease labeled sickle cell anemia (SCA) or by compound heterozygous inheritance (HbSC). Co-inheritance of beta-thalassemia, resulting in low globin protein production, can result in HbS/B+ or HbS/Bo genotypes (Steinberg and Sebastiani, 2012;Inusa et al, 2019).…”

Section: Cause Of Disease Sickle Cell Diseasementioning

confidence: 99%

In utero Therapy for the Treatment of Sickle Cell Disease: Taking Advantage of the Fetal Immune System

Cortabarria

Makhoul

Strouboulis

et al. 2021

Front. Cell Dev. Biol.

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Sickle Cell Disease (SCD) is an autosomal recessive disorder resulting from a β-globin gene missense mutation and is among the most prevalent severe monogenic disorders worldwide. Haematopoietic stem cell transplantation remains the only curative option for the disease, as most management options focus solely on symptom control. Progress in prenatal diagnosis and fetal therapeutic intervention raises the possibility of in utero treatment. SCD can be diagnosed prenatally in high-risk patients using chorionic villus sampling. Among the possible prenatal treatments, in utero stem cell transplantation (IUSCT) shows the most promise. IUSCT is a non-myeloablative, non-immunosuppressive alternative conferring various unique advantages and may also offer safer postnatal management. Fetal immunologic immaturity could allow engraftment of allogeneic cells before fetal immune system maturation, donor-specific tolerance and lifelong chimerism. In this review, we will discuss SCD, screening and current treatments. We will present the therapeutic rationale for IUSCT, examine the early experimental work and initial human experience, as well as consider primary barriers of clinically implementing IUSCT and the promising approaches to address them.

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“…A number of recent reports have addressed acceptability and feasibility of NBS for SCD in different areas of the country: validation of the use of IEF as a screening tool in Awka, Southeast Nigeria [1541]; affirmation of the feasibility and acceptability of a SCD screening intervention program in Lagos State using the HemoTypeSC TM POC for ease and reduced cost [1542]; evaluation of HPLC as a suitable NBS method for HGB at the National Hospital Abuja [1543]; documentation of the feasibility and acceptability of integrating HGB screening into an existing community-based maternalchild HIV program to increase awareness and demand for NBS from pregnant women in Benue State, Nigeria [1544]; acceptance of NBS based on awareness, education and cultural beliefs with a preference for screening away from the birthing site in Ibadan, Nigeria [1545]; and improvement of NBS program over time in Kaduna State, Nigeria [1546]. The use of POC testing has resulted in studies, including the report from Lagos State mentioned above on HemoTypeSC TM [1542], on their reliability and effectiveness in improving the speed of analysis and impact on acceptability on parents.…”

mentioning

confidence: 99%

Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020–2023)

Therrell,

Padilla,

Borrajo

et al. 2024

IJNS

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Newborn bloodspot screening (NBS) began in the early 1960s based on the work of Dr. Robert “Bob” Guthrie in Buffalo, NY, USA. His development of a screening test for phenylketonuria on blood absorbed onto a special filter paper and transported to a remote testing laboratory began it all. Expansion of NBS to large numbers of asymptomatic congenital conditions flourishes in many settings while it has not yet been realized in others. The need for NBS as an efficient and effective public health prevention strategy that contributes to lowered morbidity and mortality wherever it is sustained is well known in the medical field but not necessarily by political policy makers. Acknowledging the value of national NBS reports published in 2007, the authors collaborated to create a worldwide NBS update in 2015. In a continuing attempt to review the progress of NBS globally, and to move towards a more harmonized and equitable screening system, we have updated our 2015 report with information available at the beginning of 2024. Reports on sub-Saharan Africa and the Caribbean, missing in 2015, have been included. Tables popular in the previous report have been updated with an eye towards harmonized comparisons. To emphasize areas needing attention globally, we have used regional tables containing similar listings of conditions screened, numbers of screening laboratories, and time at which specimen collection is recommended. Discussions are limited to bloodspot screening.

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Pattern of haemoglobin phenotypes in newborn infants at the national hospital abuja using high performance liquid chromatography

Cited by 5 publications

References 1 publication

Validation of Self-Reported Parental Sickle Cell Status

Validation of Self-Reported Parental Sickle Cell Status

In utero Therapy for the Treatment of Sickle Cell Disease: Taking Advantage of the Fetal Immune System

Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020–2023)

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