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EVALUATING ABNORMAL HAEMOGLOBIN VARIANTS, ABO RHESUS BLOOD GROUP AMONG PREGNANT WOMEN

CHAPTER ONE

INTRODUCTION

1.1 Background of the study

The ABO and Rh blood groups are among the most important blood groups (Seeley et al., 2008). ABO blood groups are carbohydrate histo-blood antigens that are also expressed in many tissues and which have important roles in modulating protein activities both in infection and in some types of cancer (Greenwell, 1997). These antigens are formed by terminal glycosylation of glycoproteins and glycolipid chains present on cell surfaces. 

 Cell surface glycans have an essential role in reproductive biology and the adhesion and implantation of the blastocyst is partly mediated by carbohydrates with blood group specificity (Burrows et al., 1994). Each mammalian species has its own glycotype at the fetomaternal interface and this variation depends on both evolution and the environment (Jones et al., 2004). ABO histo-blood groups and related antigens are expressed in the endometrium and are modulated by the hormonal environment (Skovlund, 1997), but are not expressed in the placenta and fetal endothelium where only other related blood groups can be detected in the interstitial trophoblast directly opposed to the maternal deciduas (Ravn and Dabelsteen, 2000). In contrast, examination of the glycan expression at the fetomaternal interface using lectins, some with ABO determinant specificity have shown binding with placental structures (Thrower et al., 1990; Jones et al., 1997).

Corresponding Author: Salawu Oyetunde Timothy, Department of Zoology, Faculty of Science, University of Ibadan, Ibadan, Nigeria

 Rhesus system emerged as second most important blood group system due to Hemolytic Disease of Newborn (HDN) and its importance in Rh D negative individuals in subsequent transfusions once they develop Rh antibodies (Dennis et al., 1998). People are positive if they have a certain Rh antigen (the D antigen) on the surface of their erythrocytes and people are Rh-negative if they do not have this Rh antigen. Rhesus incompatibility can pose a major

problem in some pregnancies when the mother is Rhnegative and the fetus is Rh-positive (Avent, 1998) where it can lead to HDN, or erythroblastosis foetalis and it may be fatal to the fetus (Dennis et al., 1998).

 Sickle cell Hemoglobin (HbS) differs from normal Hemoglobin (HbA) because it has a valine in place of a glutamic acid in position number six of the beta chain of the globin molecule. When the availability of oxygen is reduced, the erythrocytes containing sickle cell hemoglobin change from round to sickle-shaped cells.

All human red blood cells contain a pigmented metalloprotein called haemoglobin which is of different types. Hemoglobin is the oxygen carrying pigment of the red blood cells. Defects in its genes can produce abnormal haemoglobin which leads to conditions known as haemoglobinopathies. Haemoglobin electrophoretic patterns include the normal haemoglobin which is the most prevalent and is referred to as hemoglobin A (HbA) and other abnormal ones also exist, like hemoglobin S (HbS), which is a variant form of the normal haemoglobin. The variation is in the β-globin chain gene, causing a change in the properties of haemoglobin which results in sickling of red blood cells. Another variant is haemoglobin C (HbC), which also occurs as a result of a variation in the β-globin chain gene. This variant presents with mild chronic hemolytic anemia (in homozygous HbCC and in double heterozygous SC).

Sickling disorders include the heterozygous state for haemoglobin S or the sickle cell trait (AS), the homozygous state for HbS or sickle cell anemia (SS), and the compound heterozygous state for HbS together with other haemoglobin (C, D, E) or other structural variants [1]. The prevalence of sickle cell anaemia (HbSS) among the Black population in the United States is reported to be 9% [2] and 30% – 40% generally for Africans [3]. These hemoglobin variants cause moderate to severe haemolytic anemia leading to high degree of morbidity and mortality [4,5]. Sickle-cell disease (SCD) or sickle-cell anaemia (SCA) is an autosomal recessive genetic blood disorder characterized by red cells that assume an abnormal, rigid, sickle shape. Sickle cell disease causes polymerization of haemoglobin resulting in vaso-occlusive, a plastic, sequestration and haemolytic crisis. It is caused by a single point mutation in the β-globin chain of the haemoglobin molecule and result from a substitution of the hydrophilic amino acid glutamic acid by the hydrophobic amino acid valine at the sixth position1. The carrier frequency ranges between 10% and 40% across equatorial Africa, decreasing to 1–2% on the North African coast and <1% in South Africa [6]. The highest frequency of sickle cell disease is found in tropical regions, particularly sub-Saharan Africa, India and the Middle-East [2]. Migration of substantial populations from these high prevalence areas to low prevalence countries in Europe and America has resulted in a dramatic increase of sickle cell disease in some European countries and the United States. In the US, the prevalence is approximately 1 in 5,000, affecting predominantly Americans of Sub-Saharan African descent [3]. In mainland France, 1/2,415 birth is affected with SCD. In other areas like United Kingdom, 1 baby in every 2,000 is born with SCD; approximately 17% of the population in the Eastern province of Saudi Arabia carry the gene and about 1.2% have sickle cell disease.

Communities in Africa constitute a major part of the population that is vulnerable to many erythrocytic hereditary and haematological disorders such as haemoglobinopathies. The frequencies of abnormal haemoglobin variants vary from one population to another. There is paucity of data on haemoglobin electrophoretic patterns, ABO and Rhesus D phenotype distribution among pregnant women in Sokoto, North Western Nigeria

1.2 Statement of the problem

The sickle cell Homozygote (HbSHbS) almost always dies of anemia. The sickle cell Heterozygote (HbAHbS) is only slightly anemic and has resistance to malaria (Tamarin, 2002). The normal Homozygote (HbAHbA) is not anemic and has no resistance to malaria. Thus, in areas where malaria is common, the fit genotype of the three appears to be the sickle cell heterozygote, which has resistance to malaria and only a minor anemia.  This study presents the frequency distribution of ABO and Rh blood groups and the frequency distribution of blood genotypes in this pregnant women population.

1.3 Significance of the study

 This study forms the basis for genetic counseling in the study population and will help prospective mothers make informed decisions before and after giving birth.

1.4 Objectives of the study

1. To understand the effect of haemoglobin variants and rhesus blood group in pregnant women

2. To understand the relationship between haemoglobin variants, and rhesus blood and public health of women.

1.5 Research Questions

1. What is the effect of haemoglobin variants and rhesus blood group in pregnant women

2. What is the relationship between haemoglobin variants, and rhesus blood and public health of women.

1.6 Research Hypothesis

H0: There is no relationship between haemoglobin variants, and rhesus blood and public health of women

H1: There is a relationship between haemoglobin variants, and rhesus blood and public health of women

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