BIOMAT Database Logo BIOMAT Database Logo

Sickle cell disease due to compound heterozygosity for Hb S and a novel 7.7-kb beta-globin gene deletion. 2007

B Anders R Andersson, and Mikaela E L Wering, and Hong-Yuan Luo, and Raveen K Basran, and Martin H Steinberg, and Hedy P Smith, and David H K Chui
Hemoglobin Diagnostic Reference Laboratory, Boston Medical Center, Boston, MA 02118, USA.

A young woman originally from Cape Verde islands presented with mild sickle cell disease. Her blood counts and hemoglobin analysis results initially suggested that she might be either homozygous for the sickle cell hemoglobin (Hb S) with concomitant alpha-thalassemia, or compound heterozygous for Hb S and beta0-thalassemia, deletional deltabeta-thalassemia or hereditary persistence of fetal hemoglobin (HPFH). We utilized a novel polymerase chain reaction (PCR)-based screening technique and found a hitherto unrecognized 7.7-kb deletion, starting from the HBB IVSII to 3' downstream of the beta-globin gene. This diagnostic approach can be applied to decipher other similar deletional mutations. This is the second known deletion that removes the 3'-end but preserves the integrity of the 5'-end of the beta-globin gene. Furthermore, the identification of the deletion allows proper genetic counseling for affected families.

UI MeSH Term Description Entries
D008969 Molecular Sequence Data Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories. Sequence Data, Molecular,Molecular Sequencing Data,Data, Molecular Sequence,Data, Molecular Sequencing,Sequencing Data, Molecular
D005260 Female Females
D005914 Globins A superfamily of proteins containing the globin fold which is composed of 6-8 alpha helices arranged in a characterstic HEME enclosing structure. Globin
D006451 Hemoglobin, Sickle An abnormal hemoglobin resulting from the substitution of valine for glutamic acid at position 6 of the beta chain of the globin moiety. The heterozygous state results in sickle cell trait, the homozygous in sickle cell anemia. Hemoglobin S,Deoxygenated Sickle Hemoglobin,Deoxyhemoglobin S,Hemoglobin SS,Hemoglobin, Deoxygenated Sickle,SS, Hemoglobin,Sickle Hemoglobin,Sickle Hemoglobin, Deoxygenated
D006579 Heterozygote An individual having different alleles at one or more loci regarding a specific character. Carriers, Genetic,Genetic Carriers,Carrier, Genetic,Genetic Carrier,Heterozygotes
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000328 Adult A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. Adults
D000755 Anemia, Sickle Cell A disease characterized by chronic hemolytic anemia, episodic painful crises, and pathologic involvement of many organs. It is the clinical expression of homozygosity for hemoglobin S. Hemoglobin S Disease,HbS Disease,Sickle Cell Anemia,Sickle Cell Disease,Sickle Cell Disorders,Sickling Disorder Due to Hemoglobin S,Anemias, Sickle Cell,Cell Disease, Sickle,Cell Diseases, Sickle,Cell Disorder, Sickle,Cell Disorders, Sickle,Disease, Hemoglobin S,Hemoglobin S Diseases,Sickle Cell Anemias,Sickle Cell Diseases,Sickle Cell Disorder
D001483 Base Sequence The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence. DNA Sequence,Nucleotide Sequence,RNA Sequence,DNA Sequences,Base Sequences,Nucleotide Sequences,RNA Sequences,Sequence, Base,Sequence, DNA,Sequence, Nucleotide,Sequence, RNA,Sequences, Base,Sequences, DNA,Sequences, Nucleotide,Sequences, RNA
D017353 Gene Deletion A genetic rearrangement through loss of segments of DNA or RNA, bringing sequences which are normally separated into close proximity. This deletion may be detected using cytogenetic techniques and can also be inferred from the phenotype, indicating a deletion at one specific locus. Deletion, Gene,Deletions, Gene,Gene Deletions

Related Publications

B Anders R Andersson, and Mikaela E L Wering, and Hong-Yuan Luo, and Raveen K Basran, and Martin H Steinberg, and Hedy P Smith, and David H K Chui
Beta-thalassemia intermedia due to compound heterozygosity for two beta-globin gene promoter mutations, including a novel TATA box deletion.
February 2008, Pediatric blood & cancer,
B Anders R Andersson, and Mikaela E L Wering, and Hong-Yuan Luo, and Raveen K Basran, and Martin H Steinberg, and Hedy P Smith, and David H K Chui
Compound heterozygosity Hb S/Hb Hope (beta 136 Gly-->Asp): a pitfall in the newborn screening for sickle cell disease.
January 1998, Journal of medical screening,
B Anders R Andersson, and Mikaela E L Wering, and Hong-Yuan Luo, and Raveen K Basran, and Martin H Steinberg, and Hedy P Smith, and David H K Chui
Sickle cell disease caused by heterozygosity for Hb S and novel LCR deletion: Report of two patients.
September 2009, American journal of hematology,
B Anders R Andersson, and Mikaela E L Wering, and Hong-Yuan Luo, and Raveen K Basran, and Martin H Steinberg, and Hedy P Smith, and David H K Chui
A case of compound heterozygosity for Hb S and Hb S Oman.
March 2002, British journal of haematology,
B Anders R Andersson, and Mikaela E L Wering, and Hong-Yuan Luo, and Raveen K Basran, and Martin H Steinberg, and Hedy P Smith, and David H K Chui
Compound heterozygosity for Hb S and Hb G-Copenhagen.
November 1999, Hemoglobin,
B Anders R Andersson, and Mikaela E L Wering, and Hong-Yuan Luo, and Raveen K Basran, and Martin H Steinberg, and Hedy P Smith, and David H K Chui
Compound heterozygosity for Hb S and Hb S-Oman: Case report.
November 2008, Sultan Qaboos University medical journal,
B Anders R Andersson, and Mikaela E L Wering, and Hong-Yuan Luo, and Raveen K Basran, and Martin H Steinberg, and Hedy P Smith, and David H K Chui
Compound heterozygosity for triplicated alpha-globin gene and (- -(SEA)) alpha-globin gene deletion: implication for thalassaemia screening.
August 2000, British journal of haematology,
B Anders R Andersson, and Mikaela E L Wering, and Hong-Yuan Luo, and Raveen K Basran, and Martin H Steinberg, and Hedy P Smith, and David H K Chui
Phenotypic Diversity of Sickle Cell Disease in Patients with a Double Heterozygosity for Hb S and Hb D-Punjab.
September 2016, Hemoglobin,
B Anders R Andersson, and Mikaela E L Wering, and Hong-Yuan Luo, and Raveen K Basran, and Martin H Steinberg, and Hedy P Smith, and David H K Chui
HB S-HB Monroe; a sickle cell-beta-thalassemia syndrome.
March 1998, Hemoglobin,
B Anders R Andersson, and Mikaela E L Wering, and Hong-Yuan Luo, and Raveen K Basran, and Martin H Steinberg, and Hedy P Smith, and David H K Chui
A Chinese family with Oguchi's disease due to compound heterozygosity including a novel deletion in the arrestin gene.
January 2012, Molecular vision,
Copied contents to your clipboard!