|Year : 2020 | Volume
| Issue : 3 | Page : 843-846
Detection of beta-thalassemia carriers among relatives of patients with thalassemia in Menoufia Governorate
Seham M Ragab1, Sameh A Abdelnaby1, Mohamed A Soliman2, Zein Abd El Latife Omar1, Eman Y. S Mohamed Amer1
1 Department of Pediatric, Menoufia University, Menoufia, Egypt
2 Department of Clinical Pathology, Menoufia University, Menoufia, Egypt
|Date of Submission||03-Oct-2018|
|Date of Decision||14-Nov-2018|
|Date of Acceptance||17-Nov-2018|
|Date of Web Publication||30-Sep-2020|
Eman Y. S Mohamed Amer
Shebin El Kom
Source of Support: None, Conflict of Interest: None
To detect thalassemia carriers among relatives of patients with thalassemia major.
Thalassemia syndromes are a group of blood disorders inherited in autosomal recessive manner that cause hemolytic anemia because of the decreased or absent synthesis of a globin chain. Imbalances of globin chains cause hemolysis and impair erythropoiesis. Thalassemia is the most common type of genetic abnormalities in the world. It is one of the most common genetic disorders in Egypt. Thalassemia major is variably referred to as 'Cooley's anemia' and 'Mediterranean anemia.' Thalassemia minor is also called 'beta-thalassemia carrier,' 'beta-thalassemia trait,' or 'heterozygous beta-thalassemia.'
Patients and methods
This study includes 100 children. All of them are relatives of patients with beta-thalassemia major who attended the Pediatric Hematology Clinic, Menoufia University Hospitals, in the period from May 2015 to November 2017. The age of our group ranged from 6 months to 18 years. Complete blood count, blood film, iron profile (serum iron, serum ferritin, and total iron-binding capacity), and hemoglobin electrophoresis were done for all.
A total of 30 (30%) children were found to be carriers of beta-thalassemia, 20 (20%) children were found to have iron-deficiency anemia, 20 (20%) children were found to be both carriers of beta-thalassemia and have iron-deficiency anemia, two (2%) children had thalassemia intermediate, two (2%) children had sickle cell trait, and 26 (26%) children were normal.
Beta-thalassemia carrier status is the most common cause of microcytic anemia among relatives of patients with beta-thalassemia major.
Keywords: beta-thalassemia carrier, beta-thalassemia, iron deficiency, thalassemia trait, thalassemic patient relatives
|How to cite this article:|
Ragab SM, Abdelnaby SA, Soliman MA, El Latife Omar ZA, Mohamed Amer EY. Detection of beta-thalassemia carriers among relatives of patients with thalassemia in Menoufia Governorate. Menoufia Med J 2020;33:843-6
|How to cite this URL:|
Ragab SM, Abdelnaby SA, Soliman MA, El Latife Omar ZA, Mohamed Amer EY. Detection of beta-thalassemia carriers among relatives of patients with thalassemia in Menoufia Governorate. Menoufia Med J [serial online] 2020 [cited 2020 Oct 22];33:843-6. Available from: http://www.mmj.eg.net/text.asp?2020/33/3/843/296657
| Introduction|| |
Anemia is a worldwide public health problem ,,. More than half of the world's population of preschool aged children (56.3%) have anemia . Microcytic anemia is a common category of anemia. Beta-thalassemia and iron-deficiency anemia (IDA) are the most common microcytic hypochromic anemia in the world; both have a significant effect on the patients, their families, and their new generations . Thalassemia syndromes are a group of blood disorders inherited in an autosomal recessive manner that cause hemolytic anemia owing to decreased or absent synthesis of a globin chain. Imbalances of globin chains can lead to hemolysis and impairment of erythropoiesis . The one gene defect, beta-thalassemia trait (BTT) is usually asymptomatic and leads to microcytosis and/or mild anemia . IDA is a common finding in developing countries owing to deficient nutritional status . Differentiating IDA from BTT is a diagnostic dilemma, because both disorders share many characteristics. Certainly, a correct diagnosis of patients with microcytic anemia is important, as it can provide an indication for supplementing iron or not, to avoid unnecessary iron treatment in thalassemia carriers and also for preventing severe forms of thalassemia syndromes in premarital counseling in high-prevalent areas . This study aimed at detection of BTT in relatives of patients with beta-thalassemia major.
| Patients and Methods|| |
A cross-sectional study was conducted at Pediatrics Hematology Unit in Menoufia University Hospitals during the period from May 2015 to November 2017. This study was approved by the ethical committee in Menoufia Faculty of Medicine. The study was performed in three stages. The first stage included 100 children, and all of them are relatives of patients with beta-thalassemia major. These children were screened for microcytic hypochromic anemia by complete blood count (CBC). Children who were previously diagnosed as chronic hemolytic anemia, normocytic normochromic, or macrocytic anemia were excluded from the study. Anemia was diagnosed when hemoglobin (Hb) less than 11 g/dl . Microcytosis and hypochromia diagnosed when mean cell volume (MCV) and mean cell hemoglobin levels more than 2 SD below the mean for age and sex with microcytosis with cutoff point 75 Fl for MCV . The second stage included all 74 children with microcytic hypochromic anemia. They were subjected to full history taking including the dietary history and history of previous blood transfusion, iron supplementation, and family history of consanguinity. Thorough clinical examination was done with special emphasis on presence of pallor and organomegaly. For these children with microcytic hypochromic anemia, iron profile was performed including serum iron, serum ferritin, and total iron-binding capacity (TIBC). IDA was diagnosed based on either low both serum iron and serum ferritin ± high TIBC or low serum ferritin alone below the normal level for age and sex . For 40 children whose results match with iron deficiency (low serum iron and ferritin ± high TIBC or low serum ferritin alone), oral iron supplementation was given for 1 month and then CBC was repeated. For 20 children who gained complete response to iron therapy (restoration of normal Hb level and blood indices), diagnosis was confirmed as IDA and iron therapy was continued. The third stage included children who showed incomplete response to compliant iron therapy for 1 month (20 children) and those whose results did not match with IDA from the start (34 children). Hb electrophoresis was done to diagnose 30 children with BTT, 20 children with both IDA and BTT, two children with beta-thalassemia intermediate, and two children with sickle cell trait. BTT was based on elevated levels of HbA2 more than 3.5. Written consents were taken from the guardians of the enrolled children. For CBC, under complete aseptic condition, 2 ml of venous blood was withdrawn from every participant in sterile tube containing EDTA. CBC was performed by Pentra XL80 (HORIBA ABX SAS, Parc Euromédecine, Rue du Caducée, Montpellier Cedex, France), to estimate Hb level, hematocrit, and blood indices (MCV, mean cell hemoglobin, mean cell hemoglobin concentration, and red cell distribution width). For iron profile, 2 ml of venous blood was transferred into plain tube, and centrifuged for 10 min at 4000 rpm. Total iron was determined in serum samples by colorimetric CAB method using spectrum diagnostic kits (Hannover, Germany). Serum ferritin concentration was assessed by means of particle-enhanced turbidimetric immunoassay using spectrum diagnostic kits. TIBC was determined in serum samples by colorimetric method using spectrum diagnostics kits. Hb electrophoresis was done by Mini Lite, electrophoresis automated system. The mean values and standard deviation of the hematological parameters were calculated.
Based on past review of literature, calculated at 95% confidence interval and power 80% with margin of error of 0.03, our study included 100 children. The data were processed into an IBM-PC compatible computer using statistical package for the social sciences, version 16 (SPSS Inc., Chicago, Illinois, USA). Continuous variables were presented as mean ± SD whereas for categorical variables, numbers and % were used.
| Results|| |
For the study group, 100 children were included, comprising 39 (39%) males and 61 (61%) females. Their ages ranged between 14 months and 18 years, with a mean age of 8.4 ± 4.4 years. Consanguineous marriage was found in 55% of the families. Degree of relativeness to patients with thalassemia major was first degree (80%), second degree (1%), and third degree (19%) [Table 1].
Regarding clinical data of these children, pallor was found in 57% of total group, and pica was found in 12% of them. None of them had jaundice, hepatosplenomegaly, or change in color of urine or stool [Table 2].
Of 100 children, 74 children were found to have microcytic hypochromic anemia (74%). Of these 74 children, 30 (30%) children were diagnosed as having BTT, 20 (20%) children were diagnosed as having IDA, 20 (20%) children were diagnosed as having both IDA and BTT, two (2%) children were diagnosed as beta-thalassemia intermediate, two (2%) children were diagnosed as having sickle cell trait, and 26 (26%) children were normal. Hematological parameters and iron profile (serum iron, TIBC, ferritin levels) for children of BTT, IDA, combined BTT and IDA, beta-thalassemia intermediate, sickle cell trait, and normal children are presented in [Table 3]. Results of Hb electrophoresis of the study group are presented in [Table 4].
|Table 4: Comparison between mean of hemoglobin electrophoresis results regarding study groups|
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| Discussion|| |
Anemia is a worldwide public health problem, as well as in Egypt. The Egyptian Demographic and Health Survey done in 2005 showed that the percentage of anemia among children age 6–59 months was much higher in 2005 than in 2000 (49 and 30%, respectively) . In Menoufia Governorate, a study done by Abdel-Rasoul et al.  studied the epidemiology of IDA in primary school: the prevalence of anemia was 25.6% among children whose age range from 6 to 11 years old. In our study, among screened 100 children below 18 years, all of them are relatives of patients with thalassemia major, and microcytic hypochromic anemia was diagnosed in 74% of this sample. Microcytic hypochromic anemia can be caused by iron deficiency, thalassemia, sideroblastic anemia, anemia of chronic disease, or lead poisoning. IDA is a common etiology. Moreover, thalassemia trait, especially beta-thalassemia, is considered an important cause in the relatives group. Although ~5% of the world's population has a globin variant, only 1.7% have a α-BTT or BTT ,. However, differentiating between IDA and thalassemia trait is important because patients with heterozygous thalassemia should not receive iron treatment in a trial to normalize MCV . Screening for thalassemia trait is very important in genetic counseling. The main diagnostic criteria for IDA are decreased levels of serum iron and ferritin with increased levels of serum iron-binding capacity . The diagnosis of BTT is achieved by the presence of red blood cell microcytosis and elevated levels of HbA2. However, in some mutations of BTT, HbA2 is not elevated . Iron supplementation was applied as a diagnostic therapy for children to support our results, as the most convincing clue from the clinical encounter in IDA is the child's response to iron supplementation , and not to miss cases of thalassemia trait with concomitant iron deficiency that should be treated first .
Our study verified a high prevalence of thalassemia carrier status (50%) among the screened sample (relatives of thalassemia major patients). This has been reported in other studies. In a study done in Lahore by Rashid et al.  (2015), they found that out of 200 siblings of patients with beta-thalassemia major, 156 (78%) were diagnosed as having BTT. In another study done in India by Arora S. et al.  (2017), it was revealed that there is frequent occurrence of IDA in patients with thalassemia trait. This can substantially invalidate the diagnosis of the latter. Hence, iron deficiency should be identified and rectified in patients with suspicion of thalassemia trait.
| Conclusion|| |
Beta-thalassemia carrier status is the most common cause of microcytic anemia among relatives of patients with beta-thalassemia major. Screening is very important for genetic counseling. Iron deficiency should be identified and rectified in patients with suspicion of thalassemia trait.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
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[Table 1], [Table 2], [Table 3], [Table 4]