Shine & Lal index as a predictor for early detection of \u03b2-thalassemia carriers in a limited resource area in Bandung, Indonesia

Ani Melani Maskoen,Sjarif Hidajat Effendi,Joice Sisca,Edhyana Sahiratmadja,Lelani Reniarti

doi:10.1186/s12881-019-0868-x

Ani Melani Maskoen, Sjarif Hidajat Effendi + Show 3 more

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sBackgroundThalassemia is the most common inherited disease in the world, involving α- or β-globin in red blood cells. Thalassemia cases rank fifth in the list of national catastrophic diseases in Indonesia; however, nationwide screening for thalassemia carriers is not yet mandatory. This study aimed to assess whether blood count metrics, such as the Shine & Lal index (SLI; MCV*MCV*MCH/100), might serve as a predictor to screen thalassemia carriers in a limited resource area where molecular methods are not readily available.MethodsDuring a family gathering of thalassemia patients, family members (n196) underwent a complete blood count test. Those with MCV < 80 fL and/or MCH < 27 pg and/or SLI < 1530 were further examined for Hb analysis. Only samples with HbA2 fraction > 4% or with a peak in the HbE fraction were sequenced to confirm β-globin gene mutations.ResultsOf 196 family members, 117 (59.6%) had low MCV and/or low MCH and/or low SLI. The HbE fraction (mean 24.06% ± 0.95, range 22.4–26.5) was found in 27 (13.7%) cases, and all had a mutation at codon (CD)26 (c.79G > A). The mean HbA2 fraction in these samples was 3.18% ± 0.62 (range 2.6–3.8). For samples with HbA2 > 4% (n30; 15.3%), all had mutations at IVS1nt5 (c.92 + 5 G > C; n28), CD8/9 (c.27_28insG; n1) and CD19 (c.59A > G; n1). The mean HbA2 fraction with a mutation at IVS1nt5 (c.92 + 5 G > C) was 4.65% ± 0.77 (range 4.0–5.6). Interestingly, anaemia was only present in 25 and 57% of β-thalassemia carriers with mutations at CD26 (c.79G > A) and at IVS1nt5 (c.92 + 5 G > C), respectively.ConclusionsThe Shine & Lal index is helpful in the early screening of β-thalassemia carriers, since this index confirms mutations at CD-26 (c.79G > A) and at IVS1nt5 (c.92 + 5 G > C), which are both common mutations in Bandung, Indonesia. Further DNA analysis is a topic of interest to map variants in globin genes and their distribution across populations.

Highlights

Thalassemia is the most common inherited disease in the world, involving α- or β-globin in red blood cells
The Shine & Lal index is helpful in the early screening of β-thalassemia carriers, since this index confirms mutations at CD-26 (c.79G > A) and at IVS1nt5 (c.92 + 5 G > C), which are both common mutations in Bandung, Indonesia
Of 196 family members participating in a complete blood count examination, 117 had low mean corpuscular volume (MCV) (< 80 fL) and/or low mean corpuscular haemoglobin (MCH) (< 27 pg) and/or low Shine & Lal index (< 1530)

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Introduction

Thalassemia is the most common inherited disease in the world, involving α- or β-globin in red blood cells. Thalassemia is an inherited disease caused by mutations in the α- or β-globin gene. Homozygous individuals carrying mutations in the β-globin gene are designated as β-thalassemia major patients, and this patient requires lifelong regular blood transfusion [3]. The heterozygous individual carrying a β-globin gene mutation is known as a thalassemia carrier or trait. This thalassemia carrier passes the mutation to their offspring in an autosomal recessive manner [3]. Since β-thalassemia major cases are increasing, early detection of heterozygous individuals carrying β-globin gene mutations is a point of interest

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