Knowledge and Attitude of Adult Saudi Community towards Premarital Screening Program (Sickle Cell Anemia/Thalassemia) in Riyadh Province of Saudi Arabia

Background: Premarital Screening (PMS) program in Saudi Arabia aims at limiting the spread of hereditary diseases like Sickle Cell Anemia (SCA) and Thalassemia and infectious diseases like Hepatitis B&C and Human immunodeficiency virus (HIV). Although the PMS program is reducing the percentage of incompatible marriages, the prevalence of hemoglobinopathies is still remaining high. With the changing perception of the general population towards the PMS program, an examination of community awareness and attitude toward PM S is needed to find ways for reducing the prevalence of diseases. Objective : T o assess the present knowledge and attitude of the adult Saudi community from Riyadh Province to the premarital screening (PMS) program for hemoglobinopathies. Methods: This cros s - sectional study was conducted on 676 participants from the general population in June - September 2022. The electronic questionnaire was used to assess the sociodemographic data, knowledge, and attitude toward the PMS program. Results: Out of the 676 participants, 58% were females, and 42% were males. 54% had consanguineous marriages and 5.6% hemoglobinopathies in the family. 96.3% agreed on suggesting PMS to others, 83.2% considered PMS incompatible marriage is wrong, and 78.6% considered associated g enetic counselling is important. 22.7% preferred consanguineous marriage over non - consanguineous. For raising awareness, 97.6%, 85.9%, 84.6%, and 81.2% of respondents felt the need for community participation through the internet, social media, and medical education in schools respectively. Conclusion: Most participants have a positive attitude but only superficial knowledge of the PMS program and one - third are still unaware of its use for the prevention of hemoglobinopathies, especially thalassemia. Increa sing the knowledge about the importance of the PMS program and associated genetic counselling should be done with multiple information sources in a well - organized way that suits the community’s requirements.

Characterization of beta-thalassemia mutations in patients from the state of Rio Grande do Norte, Brazil

35 unrelated individuals were studied for characterization as either heterozygous or homozygous for beta-thalassemia. Molecular analysis was done by PCR/RFLP to detect the mutations most commonly associated with beta-thalassemia (β0IVS-I-1, β+IVS-I-6, and β039). In the patients who showed none of these mutations, the beta-globin genes were sequenced. Of the 31 heterozygous patients, 13 (41.9 percent) had the β+IVS-I-6 mutation, 15 (48.4 percent) the β0IVS-I-1 mutation, 2 (6.5 percent) the β+IVS-I-110 mutation and 1 (3.2 percent) the β+IVS-I-5 mutation. IVS-I-6 was detected in the four homozygotes. The mutation in codon 39, often found in previous studies in Brazil, was not detected in the present case. This is the first study aiming at identifying mutations that determine beta-thalassemia in the state of Rio Grande do Norte.

Hb H disease resulting from the association of an αº-thalassemia allele [-(α)20.5] with an unstable α-globin variant [Hb Icaria]: First report on the occurrence in Brazil

Hb H Disease is caused by the loss or inactivation of three of the four functional a-globin genes. Patients present chronic hemolytic anemia and splenomegaly. In some cases, occasional blood transfusions are required. Deletions are the main cause of this type of thalassemia (α-thalassemia). We describe here an unusual case of Hb H disease caused by the combination of a common αº deletion [-(α)20.5] with a rare point mutation (c.427T > A), thus resulting in an elongated and unstable α-globin variant, Hb Icaria, (X142K), with 31 additional amino-acid residues. Very high levels of Hb H and Hb Bart's were detected in the patient's red blood cells (14.7 and 19.0 percent, respectively). This is the first description of this infrequent association in the Brazilian population.

Identificação e caracterização de variantes novas e raras da hemoglobina humana: [revisão] / Identification of characterization of novel and rare variants of human hemoglobin: [review]

As anormalidades estruturais da hemoglobina estão entre as doenças genéticas mais comumente encontradas nas populações humanas. O Laboratório de Hemoglobinopatias do Departamento de Patologia Clínica da Faculdade de Ciências Médicas da Universidade Estadual de Campinas - Unicamp, localizado em Campinas, no estado de São Paulo, região Sudeste do Brasil, realizou, em seus 27 anos de existência, cerca de 130.000 diagnósticos. Entre as variantes estruturais detectadas, as hemoglobinas S, C e D-Punjab foram, como esperado, as mais freqüentes, porém um número expressivo de outras hemoglobinas anômalas, novas e raras, também foi encontrado. Esses achados estão sumarizados no presente artigo.

Hemoglobin structural abnormalities are among the most commonly found human genetic diseases. The Laboratory of Hemoglobinopathies in the Clinical Pathology Department of the Medical Sciences School of the State University in Campinas - Unicamp, São Paulo, Southeastern Brazil, carried out, in its 27 years of activity, about 130,000 diagnoses. As expected, hemoglobins S, C and D were the most frequently observed variants, but an expressive number of other abnormal, novel and rare hemoglobins, was also detected. These findings are summarized in the present article.

Genética das doenças hematológicas: as hemoglobinopatias hereditárias: [revisão] / The genetics of blood disorders: hereditary hemoglobinopathies: [review]

OBJETIVO: Sumarizar os dados disponíveis na literatura recente sobre os aspectos fisiopatológicos, de diagnóstico e tratamento das doenças falciformes e da talassemia β, hemoglobinopatias hereditárias de maior relevância nas populações. FONTES DOS DADOS: MEDLINE e SciELO, utilizando os termos hemoglobinopatias hereditárias, doenças falciformes e talassemia beta, no período de 2003 a maio de 2008. Dois livros e dois capítulos de livro foram também incluídos. SÍNTESE DOS DADOS: Foram encontrados mais de 2.000 artigos, sendo selecionados aqueles de maior pertinência e amplitude. CONCLUSÕES: As taxas de morbidade e a mortalidade das doenças falciformes e da talassemia β são ainda bastante expressivas e constituem importante desafio. Um maior conhecimento dos mecanismos fisiopatológicos tem permitido avanços significativos nas formas de tratamento e prevenção dessas doenças.

OBJECTIVE: To summarize recently published data on the pathophysiology, diagnosis and treatment of sickle cell diseases and β-Thalassemias, the most relevant hereditary hemoglobinopathies in the global population. SOURCES: Searches were run on the MEDLINE and SCIELO databases, limited to the period from 2003 to May 2008, using the terms hereditary hemoglobinopathies, sickle cell diseases and β-thalassemia. Two books and two chapters were also included. SUMMARY OF THE FINDINGS: More than 2,000 articles were identified; those providing the most important information and broadest views were selected. CONCLUSIONS: Morbidity and mortality rates from sickle cell diseases and β-thalassemia are still very high and represent an important challenge. Increased understanding of pathophysiological aspects has lead to significant improvements in treatment and prevention of these diseases.