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PREVALENCE OF Β-THALASSAAEMIA TRAIT AMONG NIGERIANS

Project Topic: Prevalence of Β-Thalassaaemia Trait among Nigerians- Case of Abakaliki, Ebonyi State


ABSTRACT

Beta-thalassaemia is a group of inherited blood disorder caused by reduced or absent synthesis of beta-chains of haemoglobin resulting in variable phenotypes ranging from severe anaemia to clinically asymptomatic cases. This study which aims at determination of the prevalence of Beta-thalassaemia trait in inhabitants of Abakaliki between the age of 16-45years was carried out based on estimation of red cell indices using packed cell volume and haemoglobin values of the subjects and also on quantification of HbF using Betke method. Venous blood sample of 100 subjects comprising 50 males and 50 females who met the required selection criteria were collected. Positive diagnosis is made by low MCH, MCV and normal MCHC with elevated HbF above 1.7%. The result analysis shows MCH values of the subjects to range between 20-34 picogram, their MCV ranges from 60-98fentolitre while their MCHC is overlapping within lower limit of the normal range. Their HbF values ranges from 0.4-8.75% seven subjects i.e 3 males and 4 females out of the 100 had low MCH, MCV, and normal MCHC with elevated HbF above 1.7% thus giving a 7% out of the total population study. The significant of the study was determined at a P>0.05 using Chi-square test and was found to be insignificant. Although still insignificant in the population, this study also projects the importance of detection of beta-thalassaemia as a differential diagnosis in patients with hypochromic microcytic anaemia and shows negative results to iron studies in order to avoid wrong diagnosis. Also,there is a possibility of an increase in the prevalence of beta-thalassaemia in this area of study if there is continued ignorance of pre-marital and prenatal screening among pregnant women that have thalassaemic partners.

CHAPTER ONE

INTRODUCTION

The Thalassaaemia syndromes (quantitative haemoglobinopathies) are a heterogenous group of inherited conditions characterized by defects in the synthesis of one or more of the globin chains that form the haemoglobin tetramer. (Dacie and Lewis 2012).

Haemoglobin is the oxygen-carrying pigment of the red blood cells consisting of two pairs of globin chains attached to a haem group. The globin chain ideally can be a beta chain, alpha chain, delta chain or gamma chain depending on the type of the haemoglobin molecules. Foetal haemoglobin (HbF) consists of two alpha globin chains and two gamma globin chains. At the age of 12 months and above, the normal HbF percentage is 0.2-1% except in some hematological conditions such as; African type hereditary persistence of foetal haemoglobin (HPFH) congenital red cell aplasia and congenital aplastic anemia. (Black fan-Diamond and Fanconi anaemia, respectively), Juvenile myelomonocytic leukaemia and some myelodysplastic syndromes. (Dacie and Lewis, 2012). A small but significant increase in HbF can also be seen in erythropoietic stress (haemolysis, bleeding, recovery from acute bone marrow failure) and in pregnancy.

Adult haemoglobin is of two types;

(1) HbA which consists of two alpha chains and two beta globin chains and it forms about 98% of the adult haemoglobin.

(2) HbA2 consists of two alpha chains and two delta globin chains and forms about 2-3.3% of adult haemoglobin.  Absence or reduction in the synthesis of the alpha globin due to mutation results to alpha thalassaemia but when beta globin chain is affected it leads to βetathalassaemia.

Therefore, β-thalassaemia can be defined as a group of inherited blood disorder caused by reduced or absent synthesis of the beta –chains of haemoglobin resulting in variable phenotypes ranging from severe anaemia to clinically asymptomatic conditions/cases. Thalassaemias are generally inherited as alleles of one or more of the globin genes located on either chromosome 11 (for b, y and delta chains), or on chromosome 16 (for alpha chains). They are encountered in every population in the world but are most common in the Mediterranean and near equatorial regions of Africa and Asia. Gene frequencies for the alpha and β-thalassaemias on a global basis range from 1% to more than 80% in areas where malaria is endemic (Dacie and Lewis, 2012). Clinical manifestation ranges from completely asymptomatic microcytosis to profound anaemia that is incompatible with life and can cause death in utero.

1.1 BACKGROUND OF THE STUDY

Genes that confer resistance to malaria (including thalassaaemia, haemoglobin S, glucose -6- phosphate dehydrogenase) are prevalent in areas of high malaria endemicity. These mutant genes vary in relative frequency depending on the location of these area, for instance sickle cell genes are most prevalent in sub-saharan Africa. Earlier studies done on the prevalence of β-thalassaaemia in West Africa showed a β-thalassaaemia trait frequency of about 9% in Liberia (Willcox, 1975), with similar frequencies being reported from other West African countries such as Ghana (Ringelham et al, 1968) and Ivory coast (Will Cox et al., 1970) thus indicating that there is an increase in prevalence of β-thalassaaemia in contrast to what was previously thought.

Findings from other research data such as those obtained from above-mentioned research work are very different from data which reported that β-thalassaaemia has a prevalence of only 0.8% in Nigeria (Esan, 1970) irrespective of the fact that all these countries share same climatic conditions and have very similar levels of malaria endemicity and also 25% of the Nigerian population are carriers of the sickle cell trait, another 25% are hemizygous of G6PD genes(Kotila,2007) hence there is every possibility that there may be an increase in β-thalassaaemia trait.

Recent study carried out by (Kotila et al, 2007) in determining the prevalence of β-thalassaaemia in Western Nigeria by quantification of HbA2 and HbF using electrophoresis and Betke method respectively suggested that β-thalassaaemia may be more common than previously though in these areas thus this study in Abakaliki capital tries to provide its own statistical data for Ebonyi State.

1.2 STATEMENT OF THE PROBLEM

Despite the fact that other neighboring countries of Nigeria have known the percentage of their population with β-thalassaaemia trait, there is no recent records/data concerning such in Nigeria, this may be due to lack of statistical data from the individual states though there are some for western part of Nigeria, this study tends to solve this problem by providing research-based data about the prevalence of β-thalassaaemia traits among apparently healthy inhabitants of Abakaliki, the capital city of Ebonyi State in Eastern part of Nigeria.

1.3 AIMS AND OBJECTIVE

  1. To evaluate the percentage of inhabitants of Abakaliki that has β-thalassaaemia trait.
  2. To provide information to the scientific community and research team on thalassaaemia syndromes.
  3. To give an inference or assumption of occurrence of β-thalassaaemia trait among the next populace within the study area.

1.4 JUSTIFICATION

It has been observed that no statistical data exists for percentage of inhabitants of Abakaliki with Beta-thalassaaemia syndromes or trait; hence this study will provide such data for other investigation. Data obtained from this study may suggest the inclusion of laboratory diagnosis of β-thalassaaemia among severe anaemic patients in order to avoid mis-diagnosis and mis-treatment with other similar disease conditions that causes anaemia eg; G6PD deficiency and iron deficiency anaemia.    

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