Chromatographic analysis of Hb S for the diagnosis of various sickle cell disorders in Pakistan

Abstract

Sickle cell disease remains a relatively obscure theme in research on haemoglobinopathies in Pakistan. Limited data is available regarding its prevalence in the country. The objective of our study was not only to estimate the frequency of different sickle cell diseases but also to provide quantitative estimation of haemoglobin S and other haemoglobin variants using an automated high-performance liquid chromatography (HPLC) system. For this purpose, we retrospectively evaluated the results of HPLC performed on all patients with suspected haemoglobinopathies during the years 2005 and 2006. Information derived from various sources was used to identify a particular genotype by analysing each sample containing Hb S with respect to haemoglobin, red cell indices and levels of various associated haemoglobin variants. Analysis of 15,699 samples identified 302 patients with Hb S (1.92%). The genotypes identified included Sbeta(0) (46.7%), SS (19.2%), SA (11.6%), Sbeta(+) (8.6%) and SD (2.3%). Thirty-five cases could not be categorised and were labelled 'unclassified'. Majority of the patients (62.3%) were below the age of 18 years. Balochistan, which is the largest province based on the area, yielded the highest number of patients (n = 140). In the Sbeta(0) group, the mean haemoglobin and Hb S were lower in children compared to adults (p value of 0.001 and 0.016, respectively). We conclude that sickle cell disorders are prevalent in Pakistan to a significant extent, being concentrated in certain areas of the country. We present the first report of various haemoglobin S genotypes from our population. It is hoped that it will act as a database to characterise the same for our population.

Hemoglobin E syndromes in Pakistani population

“…Hemoglobin S had been reported from this region [23] and the occurrence of this combination was no surprise. However, HbE and F levels did not correspond to the previously published reports in the similar condition.…”

“…However, HbE and F levels did not correspond to the previously published reports in the similar condition. We hypothesized that co-existing iron deficiency reduced the quantity of HbE and high HbF in sickle cell disorders is not atypical for this geographical region [23]. …”

“…Various hemoglobinopathies have been reported from this country [19] including alpha [20] and beta thalassaemia [21,22], sickle cell disorders [23], Hb D [24,25], Hb Q [26]and other rare variants [27]. Sporadic cases of HbE have been reported from Pakistanis living in United Kingdom [6,28] but the information regarding HbE for the country remains fragmentary hitherto.…”

Sickle Cell Anemia; 3 Years Clinical Experience in Bisha, Saudi Arabia (2010-2013)

“…The genetic carriers of Sickle Cell Anemia comprise about 3% of the total world's population, as mentioned by the World Health Organization 2 . The Sickle Cell Anemia affected about 100, 000 people of the United States, among them 2 million are carrier 3 however, embarked decline in the mortality 4 and the mean age of death in male is 53 years and in female about 58 years 5 . In Pakistan, 0.5-1% of populationis carriers of Hemoglobin S 6 , whereas about 5.1% of prevalence found in Karachi 7 .…”

Morphological Patterns of Anaemia and Prevalence of Haemoglobinopathy in State of Haryana

“…Sickle Cell Syndrome : Hashmi et al [28] reported mean age at diagnosis to be 13 years in sickle cell trait cases. As in our cases, Mohanty et al [29] also reported reduced MCV and MCH in sickle cell trait cases(63.5 fl and 19.8 pg).…”