Ibrahim Keser | Akdeniz University (original) (raw)
Papers by Ibrahim Keser
Türkiye klinikleri tıp bilimleri dergisi, 2010
Hemoglobin beta (HBB):c.*+96T>C substitution is very rare among β-globin gene mutations and it... more Hemoglobin beta (HBB):c.*+96T>C substitution is very rare among β-globin gene mutations and its clinical significance remains to be clarified. The present study aimed to investigate the role of HBB:c.*+96T>C in the β-thalassemia intermedia phenotype in a Turkish family. The proband and parents were screened for β-globin gene mutations via direct sequencing. Hematological and physical examination results were recorded, and correlated according to genotype. The proband was compound heterozygous for Cod 8 (-AA) and HBB:c.*+96T>C, whereas his mother and father were heterozygous for Cod 8 (-AA) and HBB:c.*+96T>C, respectively. The father had almost normal hematological findings, whereas the mother had the typical β-thalassemia trait phenotype. The proband was diagnosed as mild β-thalassemia intermedia based on hepatosplenomegaly and hematological findings. To the best of our knowledge this is the first report of HBB:c.*+96T>C mutation in a Turkish family. HBB:c.* 96T>C ...
BMB Reports, 2010
Cytochrome P450 (CYP) 1A2 gene polymorphisms are thought to be involved in the metabolism of theo... more Cytochrome P450 (CYP) 1A2 gene polymorphisms are thought to be involved in the metabolism of theophylline (TP). We aimed to investigate the effect of CYP1A2*1C, CYP1A2*1D, CYP1A2*1E, and CYP1A2*1F polymorphisms of the CYP1A2 on TP metabolism by PCR-RFLP in 100 Turkish patients with chronic obstructive pulmonary disease (COPD) receiving TP. One hundred and one healthy volunteers were included as control group. The genotype frequencies of the CYP1A2*1D and CYP1A2*1F were found to be significantly different in the patients compared to the controls. The "T" allele at-2467 delT and the "C" allele at-163 C ＞ A in the CYP1A2 displayed association with a significantly increased risk for COPD. "T" allele at-2467 delT was also associated with a high risk of disease severity in COPD. In conclusion, our data suggest that genetic alterations in CYP1A2 may play a role both in the pharmacogenetics of TP and in the development of COPD.
Turkish journal of haematology : official journal of Turkish Society of Haematology, Jan 5, 2005
Compound heterozygosity for Hb Tyne and HbS, that is very rare, was identified by direct DNA sequ... more Compound heterozygosity for Hb Tyne and HbS, that is very rare, was identified by direct DNA sequencing of the beta-globin gene in a Turkish patient. Hematological investigation of a girl at the age of 9 due to the presence of HbS (40.7%) led to the identification of a compound heterozygosity at codons 5-6. This was found to be the result of substitution of cytosine (C) for thymidine (T) at the fifth position and a substitution of adenine (A) for thymidine (T) at the sixth position of the beta globin gene. As a result of these mutations, the order of amino acids at codons 5-6 was changed from Pro-Glu to Ser-Val, respectively. Since the co-inheritance of Hb Tyne and HbS had not been reported in literature before, our case set an example for identification of coinheritance of Hb Tyne and HbS for the first time. Therefore, such cases may be considered as an important example for understanding the structural variants of hemoglobin and may provide important clues for critical amino acids...
![Research paper thumbnail of First Observation of Hemoglobin Kansas [β102(G4)Asn→Thr, AAC>ACC] in the Turkish Population](https://attachments.academia-assets.com/118921442/thumbnails/1.jpg)
](Turkish Journal of Hematology, 2015
Turkish Journal of Hematology, 2016
Turkish journal of haematology : official journal of Turkish Society of Haematology, Jan 6, 2015
Although the calculated carrier frequency for point mutations of the β-globin gene is around %10 ... more Although the calculated carrier frequency for point mutations of the β-globin gene is around %10 for Antalya province, nothing known about the profile of large deletional mutations involving the β-globin gene. In this study, we aimed to screen common deletional mutations in β-globin gene cluster in patients in which direct DNA sequencing were not able to demonstrate the mutation(s) responsible for the disease phenotype. Finally 31 index cases selected with a series of selection events amongst 60 cases without detected β-globin gene mutation within 580 thalassemia related cases tested by direct sequencing over the last four years in our diagnostic center were screened for the most common eight different large deletional mutations of the β-globin gene cluster by gap-PCR. We detected 9 heterozygous and 1 homozygous novel unrelated cases for the Turkish inversion/deletion (δβ)o mutation in our series of 31 cases. Our study showed that the Turkish inversion/deletion (δβ)o mutation per se...
Genetic counseling (Geneva, Switzerland), 2012
ARX mutations give rise to both syndromic and nonsyndromic forms of mental retardation (MR). We i... more ARX mutations give rise to both syndromic and nonsyndromic forms of mental retardation (MR). We investigated the most common ARX mutations, c.428_451 dup(24bp) and c.333ins (GCG)7 in a series of 370 mentally retarded FMR1 (CGG)n expansion mutation negative Turkish patients using PCR amplification and high resolution MetaPhor agarose gel electrophoresis. Sequence analysis was also performed for confirmation and discrimination of the mutations. One patient representing non-syndromic X-linked MR showed an abnormal band pattern on agarose gel and sequence analysis of exon 2 of the ARX gene revealed that the patient had the c.428_451 dup(24bp) mutation. When we screened the family members, we found that his sister and mother were also carrier for the same mutation. The proband showed mild MR and subtle clinical findings like dysarthria and lack of fine motor functions. In conclusion, the patients with weak fine motor skills and positive family history for X-linked MR should be screened f...
Turkiye Klinikleri Journal of Medical Sciences, 2012
pithelial ovarian carcinoma (EOC) is the leading cause of death among gynecological malignancies.... more pithelial ovarian carcinoma (EOC) is the leading cause of death among gynecological malignancies. EOC is generally diagnosed at advanced stages in which tumor has already spread into abdomino-Expressional Analyses of NM23-H1, KAI1 and MKK4 Metastasis-Related Genes in Metastatic Ovarian Carcinomas A AB BS ST TR RA AC CT T O Ob bj je ec ct ti iv ve e: : Cytoreductive surgery as a basis of therapy in epithelial ovarian carcinomas (EOC) provides the primary tumor and metastatic tumor samples from a same patient. This gives an excellent opportunity for evaluation of metastatic factors by excluding inter-individual differences. Therefore, we aimed to define changes at mRNA levels of NM23-H1, KAI1 and MKK4 metastasisrelated genes in the paired normal tissue, primary tumor and omental metastatic tumor samples obtained from a same patient. M Ma at te er ri ia al l a an nd d M Me et th ho od ds s: : mRNA levels were quantified by quantitative reverse transcription polymerase chain reaction (Q-RT-PCR) following total RNA extraction in normal tissues, primary malign tissues of EOC, and its metastatic lesions on omentum for 41 patients with stage III-C (FIGO) EOC. R Re es su ul lt ts s: : We found that mRNA level of NM23-H1 was significantly higher in metastatic samples compared to primary tumors (p=0.009). On the other hand, MKK4 was found to be significantly lower in primary tumor samples compared to normal tissues (p=0.024). There was no significant change at mRNA level of KAI1 among normal tissues, primary tumors and omental metastatic tumor samples. C Co on nc cl lu us si io on n: : We suppose that in detailed functional studies, approaches that suppress NM23-H1 gene and restore MKK4 gene would make these genes important molecular targets for treatment of metastatic EOC in the future.
Turkiye Klinikleri Journal of Medical Sciences, 2010
Pediatrics International, 2008
Background: β‐Thalassemia is an autosomal recessive disease characterized by defective β‐globin c... more Background: β‐Thalassemia is an autosomal recessive disease characterized by defective β‐globin chain production. Osteoporosis is an important cause of morbidity in patients with β‐thalassemia major. The pathogenesis of reduced bone mineral density (BMD) is multifactorial. A range of genetics factors have been implicated in other populations of patients with osteoporosis. Polymorphism at the Sp1 binding site of the collagen type I A1 (COLIA1) gene is thought to be an important factor in the development of osteoporosis.Methods: Alleles S and s, detected by presence of a G or T nucleotide, respectively in a regulatory site of the COLIA1 gene were investigated in 37 β‐thalassemia major patients with osteoporosis and 92 controls without osteoporosis or osteopenia using polymerase chain reaction–restriction fragment length polymorphism.Results: Fifteen and nine β‐thalassemia major patients displayed SS and Ss genotypes, respectively, whereas 13 were found to have an ss genotype. The mean...
Laboratory Medicine, 2011
International Journal of Laboratory Hematology, 2012
There are approximately 800 different genomic alterations of the b-globin gene described in the h... more There are approximately 800 different genomic alterations of the b-globin gene described in the human hemoglobin variant (HbVar) database. In this study, we have identified two novel putative mutations (HBB:c.*+108 A>G and HBB:c.*+132 C>T) in the 3′ untranslated region (3′-UTR) of the b-globin gene and describe their clinical implications. Methods: Four patients from two unrelated families, all with hematological and clinical features associated with beta-thalassemia (b-thal), and their family members were included. The molecular diagnoses of the b-globin gene mutations were performed by direct sequencing. Results: A novel mutation, HBB:c.*+108 A>G, was found in combination with the IVS-I-110 G>A (HBB:c.93-21 G>A) mutation in three siblings (two brothers and one sister) from one of the families involved in our study. Their mother was found to be a carrier for HBB:c.*+108 A>G with normal HbA 2 levels. The other novel mutation, HBB:c.*+132 C>T, was found in combination with IVS-I-1 G>A (HBB:c.92 + 1G>A) in a 7-year-old boy diagnosed as b-thal intermedia from the second family. His father and two brothers were all carriers of HBB:c.*+132 C>T with borderline HbA 2 levels. Conclusion: Based on the observed b-thal intermedia phenotypes and the accompanying mutations, we conclude that these novel b-globin gene 3′ UTR mutations are associated with the mild phenotype of b-thal.
Indian Journal of Medical Sciences, 2005
BACKGROUND: Detection of the (CGG) n repeats in the FMR1 gene that cause the fragile X syndrome (... more BACKGROUND: Detection of the (CGG) n repeats in the FMR1 gene that cause the fragile X syndrome (FXS), has become a milestone for phenotype-genotype correlation in FXS. AIMS: To screen the FMR1 gene CGG repeats in index cases with FXS and their family members in the Antalya Province.
Biochemical Genetics, 2010
This study determined the allelic frequency and genotypic distribution of an angiotensin-converti... more This study determined the allelic frequency and genotypic distribution of an angiotensin-converting enzyme (ACE) polymorphism and serum ACE activity in Turkish patients with obstructive sleep apnea syndrome (OSAS). A colorimetric assay measured serum ACE activity in 73 of 97 subjects. Frequencies for II, ID, and DD genotypes were 19.6, 53.6, and 26.8% in the OSAS group and 15, 38, and 47% in the control group, respectively (P = 0.02). The I allele frequency was higher in the OSAS group than in the healthy control group (P = 0.02). Carrying the I allele (II or ID genotypes) increased OSAS risk 2.41 times in the Turkish population. Mean ACE activity was significantly lower in patients with the II genotype than in the DD genotype (P = 0.011), and ACE activity was significantly lower in patients with severe OSAS than in those with mild OSAS (P = 0.006). Our results suggest that II and ID genotypes of the ACE gene increase the risk of developing OSAS in the Turkish population.
Acta Haematologica, 2004
We have studied 918 chromosomes for mutations leading to β-thalassemia and sickle cell anemia, wh... more We have studied 918 chromosomes for mutations leading to β-thalassemia and sickle cell anemia, which are the two most frequently found monogenic disorders in Antalya, Turkey. Three hundred and seventy-seven postnatal and 82 prenatal cases were studied between 2000 and May 2003 in our center using reverse dot blot hybridization (RDBH) with 22 probes specific for Mediterranean populations. In this study, IVSI-110 (G→A) appeared to be the most common mutation with an occurrence rate of 44.4% among the 16 different mutations found to be associated with β-thalassemia. Heterozygosity for IVSI-110 was the most prevalent combination, whereas 34 of our 377 postnatal cases showed homozygosity for this mutation, a genotype leading to β-thalassemia major. The total percentage of postnatal patients clinically diagnosed as β-thalassemia major was 18.6%, whereas 5% of the cases were diagnosed clinically as β-thalassemia intermedia. One new Hb variant, Hb Antalya, and one new mutation, Cod 3 (+T) w...
Eastern Journal Of Medicine, 2021
Yonsei Medical Journal, 2008
Hemoglobin, Jan 28, 2016
Novel β-globin gene mutations are still occasionally being reported, especially when evaluating m... more Novel β-globin gene mutations are still occasionally being reported, especially when evaluating milder phenotypes. We report here a novel putative mutation in the promoter region of the β-globin gene and assess its clinical implications. A family, parents and four siblings, with hematological and clinical features suspected of being β-globin gene mutation(s), were involved in this study. In addition to hematological and clinical evaluations of the whole family, molecular analyses of the β-globin gene were performed by direct sequencing. Sequencing of the β-globin gene revealed a novel genomic alteration in the regulatory region of the gene. This novel genomic alteration was defined as HBB: c.-127G > C according to the Human Genome Variation Society (HGVS) nomenclature. Two siblings were found to be carriers of the HBB: c.-127G > C mutation, while the other two siblings were carriers of the codon 8 (-AA) (HBB: c.25_26delAA) deletion of the β-globin gene. The mother was a compou...
Annales de Génétique
ABSTRACT
Türkiye klinikleri tıp bilimleri dergisi, 2010
Hemoglobin beta (HBB):c.*+96T>C substitution is very rare among β-globin gene mutations and it... more Hemoglobin beta (HBB):c.*+96T>C substitution is very rare among β-globin gene mutations and its clinical significance remains to be clarified. The present study aimed to investigate the role of HBB:c.*+96T>C in the β-thalassemia intermedia phenotype in a Turkish family. The proband and parents were screened for β-globin gene mutations via direct sequencing. Hematological and physical examination results were recorded, and correlated according to genotype. The proband was compound heterozygous for Cod 8 (-AA) and HBB:c.*+96T>C, whereas his mother and father were heterozygous for Cod 8 (-AA) and HBB:c.*+96T>C, respectively. The father had almost normal hematological findings, whereas the mother had the typical β-thalassemia trait phenotype. The proband was diagnosed as mild β-thalassemia intermedia based on hepatosplenomegaly and hematological findings. To the best of our knowledge this is the first report of HBB:c.*+96T>C mutation in a Turkish family. HBB:c.* 96T>C ...
BMB Reports, 2010
Cytochrome P450 (CYP) 1A2 gene polymorphisms are thought to be involved in the metabolism of theo... more Cytochrome P450 (CYP) 1A2 gene polymorphisms are thought to be involved in the metabolism of theophylline (TP). We aimed to investigate the effect of CYP1A2*1C, CYP1A2*1D, CYP1A2*1E, and CYP1A2*1F polymorphisms of the CYP1A2 on TP metabolism by PCR-RFLP in 100 Turkish patients with chronic obstructive pulmonary disease (COPD) receiving TP. One hundred and one healthy volunteers were included as control group. The genotype frequencies of the CYP1A2*1D and CYP1A2*1F were found to be significantly different in the patients compared to the controls. The "T" allele at-2467 delT and the "C" allele at-163 C ＞ A in the CYP1A2 displayed association with a significantly increased risk for COPD. "T" allele at-2467 delT was also associated with a high risk of disease severity in COPD. In conclusion, our data suggest that genetic alterations in CYP1A2 may play a role both in the pharmacogenetics of TP and in the development of COPD.
Turkish journal of haematology : official journal of Turkish Society of Haematology, Jan 5, 2005
Compound heterozygosity for Hb Tyne and HbS, that is very rare, was identified by direct DNA sequ... more Compound heterozygosity for Hb Tyne and HbS, that is very rare, was identified by direct DNA sequencing of the beta-globin gene in a Turkish patient. Hematological investigation of a girl at the age of 9 due to the presence of HbS (40.7%) led to the identification of a compound heterozygosity at codons 5-6. This was found to be the result of substitution of cytosine (C) for thymidine (T) at the fifth position and a substitution of adenine (A) for thymidine (T) at the sixth position of the beta globin gene. As a result of these mutations, the order of amino acids at codons 5-6 was changed from Pro-Glu to Ser-Val, respectively. Since the co-inheritance of Hb Tyne and HbS had not been reported in literature before, our case set an example for identification of coinheritance of Hb Tyne and HbS for the first time. Therefore, such cases may be considered as an important example for understanding the structural variants of hemoglobin and may provide important clues for critical amino acids...
Turkish Journal of Hematology, 2015
Turkish Journal of Hematology, 2016
Turkish journal of haematology : official journal of Turkish Society of Haematology, Jan 6, 2015
Although the calculated carrier frequency for point mutations of the β-globin gene is around %10 ... more Although the calculated carrier frequency for point mutations of the β-globin gene is around %10 for Antalya province, nothing known about the profile of large deletional mutations involving the β-globin gene. In this study, we aimed to screen common deletional mutations in β-globin gene cluster in patients in which direct DNA sequencing were not able to demonstrate the mutation(s) responsible for the disease phenotype. Finally 31 index cases selected with a series of selection events amongst 60 cases without detected β-globin gene mutation within 580 thalassemia related cases tested by direct sequencing over the last four years in our diagnostic center were screened for the most common eight different large deletional mutations of the β-globin gene cluster by gap-PCR. We detected 9 heterozygous and 1 homozygous novel unrelated cases for the Turkish inversion/deletion (δβ)o mutation in our series of 31 cases. Our study showed that the Turkish inversion/deletion (δβ)o mutation per se...
Genetic counseling (Geneva, Switzerland), 2012
ARX mutations give rise to both syndromic and nonsyndromic forms of mental retardation (MR). We i... more ARX mutations give rise to both syndromic and nonsyndromic forms of mental retardation (MR). We investigated the most common ARX mutations, c.428_451 dup(24bp) and c.333ins (GCG)7 in a series of 370 mentally retarded FMR1 (CGG)n expansion mutation negative Turkish patients using PCR amplification and high resolution MetaPhor agarose gel electrophoresis. Sequence analysis was also performed for confirmation and discrimination of the mutations. One patient representing non-syndromic X-linked MR showed an abnormal band pattern on agarose gel and sequence analysis of exon 2 of the ARX gene revealed that the patient had the c.428_451 dup(24bp) mutation. When we screened the family members, we found that his sister and mother were also carrier for the same mutation. The proband showed mild MR and subtle clinical findings like dysarthria and lack of fine motor functions. In conclusion, the patients with weak fine motor skills and positive family history for X-linked MR should be screened f...
Turkiye Klinikleri Journal of Medical Sciences, 2012
pithelial ovarian carcinoma (EOC) is the leading cause of death among gynecological malignancies.... more pithelial ovarian carcinoma (EOC) is the leading cause of death among gynecological malignancies. EOC is generally diagnosed at advanced stages in which tumor has already spread into abdomino-Expressional Analyses of NM23-H1, KAI1 and MKK4 Metastasis-Related Genes in Metastatic Ovarian Carcinomas A AB BS ST TR RA AC CT T O Ob bj je ec ct ti iv ve e: : Cytoreductive surgery as a basis of therapy in epithelial ovarian carcinomas (EOC) provides the primary tumor and metastatic tumor samples from a same patient. This gives an excellent opportunity for evaluation of metastatic factors by excluding inter-individual differences. Therefore, we aimed to define changes at mRNA levels of NM23-H1, KAI1 and MKK4 metastasisrelated genes in the paired normal tissue, primary tumor and omental metastatic tumor samples obtained from a same patient. M Ma at te er ri ia al l a an nd d M Me et th ho od ds s: : mRNA levels were quantified by quantitative reverse transcription polymerase chain reaction (Q-RT-PCR) following total RNA extraction in normal tissues, primary malign tissues of EOC, and its metastatic lesions on omentum for 41 patients with stage III-C (FIGO) EOC. R Re es su ul lt ts s: : We found that mRNA level of NM23-H1 was significantly higher in metastatic samples compared to primary tumors (p=0.009). On the other hand, MKK4 was found to be significantly lower in primary tumor samples compared to normal tissues (p=0.024). There was no significant change at mRNA level of KAI1 among normal tissues, primary tumors and omental metastatic tumor samples. C Co on nc cl lu us si io on n: : We suppose that in detailed functional studies, approaches that suppress NM23-H1 gene and restore MKK4 gene would make these genes important molecular targets for treatment of metastatic EOC in the future.
Turkiye Klinikleri Journal of Medical Sciences, 2010
Pediatrics International, 2008
Background: β‐Thalassemia is an autosomal recessive disease characterized by defective β‐globin c... more Background: β‐Thalassemia is an autosomal recessive disease characterized by defective β‐globin chain production. Osteoporosis is an important cause of morbidity in patients with β‐thalassemia major. The pathogenesis of reduced bone mineral density (BMD) is multifactorial. A range of genetics factors have been implicated in other populations of patients with osteoporosis. Polymorphism at the Sp1 binding site of the collagen type I A1 (COLIA1) gene is thought to be an important factor in the development of osteoporosis.Methods: Alleles S and s, detected by presence of a G or T nucleotide, respectively in a regulatory site of the COLIA1 gene were investigated in 37 β‐thalassemia major patients with osteoporosis and 92 controls without osteoporosis or osteopenia using polymerase chain reaction–restriction fragment length polymorphism.Results: Fifteen and nine β‐thalassemia major patients displayed SS and Ss genotypes, respectively, whereas 13 were found to have an ss genotype. The mean...
Laboratory Medicine, 2011
International Journal of Laboratory Hematology, 2012
There are approximately 800 different genomic alterations of the b-globin gene described in the h... more There are approximately 800 different genomic alterations of the b-globin gene described in the human hemoglobin variant (HbVar) database. In this study, we have identified two novel putative mutations (HBB:c.*+108 A>G and HBB:c.*+132 C>T) in the 3′ untranslated region (3′-UTR) of the b-globin gene and describe their clinical implications. Methods: Four patients from two unrelated families, all with hematological and clinical features associated with beta-thalassemia (b-thal), and their family members were included. The molecular diagnoses of the b-globin gene mutations were performed by direct sequencing. Results: A novel mutation, HBB:c.*+108 A>G, was found in combination with the IVS-I-110 G>A (HBB:c.93-21 G>A) mutation in three siblings (two brothers and one sister) from one of the families involved in our study. Their mother was found to be a carrier for HBB:c.*+108 A>G with normal HbA 2 levels. The other novel mutation, HBB:c.*+132 C>T, was found in combination with IVS-I-1 G>A (HBB:c.92 + 1G>A) in a 7-year-old boy diagnosed as b-thal intermedia from the second family. His father and two brothers were all carriers of HBB:c.*+132 C>T with borderline HbA 2 levels. Conclusion: Based on the observed b-thal intermedia phenotypes and the accompanying mutations, we conclude that these novel b-globin gene 3′ UTR mutations are associated with the mild phenotype of b-thal.
Indian Journal of Medical Sciences, 2005
BACKGROUND: Detection of the (CGG) n repeats in the FMR1 gene that cause the fragile X syndrome (... more BACKGROUND: Detection of the (CGG) n repeats in the FMR1 gene that cause the fragile X syndrome (FXS), has become a milestone for phenotype-genotype correlation in FXS. AIMS: To screen the FMR1 gene CGG repeats in index cases with FXS and their family members in the Antalya Province.
Biochemical Genetics, 2010
This study determined the allelic frequency and genotypic distribution of an angiotensin-converti... more This study determined the allelic frequency and genotypic distribution of an angiotensin-converting enzyme (ACE) polymorphism and serum ACE activity in Turkish patients with obstructive sleep apnea syndrome (OSAS). A colorimetric assay measured serum ACE activity in 73 of 97 subjects. Frequencies for II, ID, and DD genotypes were 19.6, 53.6, and 26.8% in the OSAS group and 15, 38, and 47% in the control group, respectively (P = 0.02). The I allele frequency was higher in the OSAS group than in the healthy control group (P = 0.02). Carrying the I allele (II or ID genotypes) increased OSAS risk 2.41 times in the Turkish population. Mean ACE activity was significantly lower in patients with the II genotype than in the DD genotype (P = 0.011), and ACE activity was significantly lower in patients with severe OSAS than in those with mild OSAS (P = 0.006). Our results suggest that II and ID genotypes of the ACE gene increase the risk of developing OSAS in the Turkish population.
Acta Haematologica, 2004
We have studied 918 chromosomes for mutations leading to β-thalassemia and sickle cell anemia, wh... more We have studied 918 chromosomes for mutations leading to β-thalassemia and sickle cell anemia, which are the two most frequently found monogenic disorders in Antalya, Turkey. Three hundred and seventy-seven postnatal and 82 prenatal cases were studied between 2000 and May 2003 in our center using reverse dot blot hybridization (RDBH) with 22 probes specific for Mediterranean populations. In this study, IVSI-110 (G→A) appeared to be the most common mutation with an occurrence rate of 44.4% among the 16 different mutations found to be associated with β-thalassemia. Heterozygosity for IVSI-110 was the most prevalent combination, whereas 34 of our 377 postnatal cases showed homozygosity for this mutation, a genotype leading to β-thalassemia major. The total percentage of postnatal patients clinically diagnosed as β-thalassemia major was 18.6%, whereas 5% of the cases were diagnosed clinically as β-thalassemia intermedia. One new Hb variant, Hb Antalya, and one new mutation, Cod 3 (+T) w...
Eastern Journal Of Medicine, 2021
Yonsei Medical Journal, 2008
Hemoglobin, Jan 28, 2016
Novel β-globin gene mutations are still occasionally being reported, especially when evaluating m... more Novel β-globin gene mutations are still occasionally being reported, especially when evaluating milder phenotypes. We report here a novel putative mutation in the promoter region of the β-globin gene and assess its clinical implications. A family, parents and four siblings, with hematological and clinical features suspected of being β-globin gene mutation(s), were involved in this study. In addition to hematological and clinical evaluations of the whole family, molecular analyses of the β-globin gene were performed by direct sequencing. Sequencing of the β-globin gene revealed a novel genomic alteration in the regulatory region of the gene. This novel genomic alteration was defined as HBB: c.-127G > C according to the Human Genome Variation Society (HGVS) nomenclature. Two siblings were found to be carriers of the HBB: c.-127G > C mutation, while the other two siblings were carriers of the codon 8 (-AA) (HBB: c.25_26delAA) deletion of the β-globin gene. The mother was a compou...
Annales de Génétique
ABSTRACT