HB Seal Rock [(α2)142 Term→glu, Codon 142 TAA→GAA]: An Extended α Chain Variant Associated with Anemia, Microcytosis, and α-Thalassemia-2 (-3.7 KB)

Merritt, Diane F.; Jones, Richard T.; Head, Charlotte; Thibodeau, Stephen N.; Fairbanks, Virgil F.; Steinberg, Martin H.; Coleman, Mary B.; Rodgers, Griffin P.

doi:10.3109/03630269709000666

Cited by 21 publications

(4 citation statements)

References 22 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…We identified 5 rare b globin chain variants in individuals originating from different states. Hb British Columbia has been described earlier in a 26 year old east India male from Canada and a Caucasian family in the USA, and was associated with mild erythrocytosis [2,3]. Our case had a Hb of 12.0 g/dl and an RBC count of 5.1 9 10 6 /ll but had no clinical manifestations.…”

Section: Discussionsupporting

confidence: 48%

Five Rare β Globin Chain Hemoglobin Variants in India

Colah

Nadkarni

Gorakshakar

et al. 2016

Indian J Hematol Blood Transfus

View full text Add to dashboard Cite

Thalassemias as well as structural hemoglobin (Hb) variants are common monogenic inherited disorders of Hb in India. In this paper we describe 5 rare b-chain Hb variants identified in the Indian population on the basis of high performance liquid chromatography (HPLC). Of these 3 were identified during antenatal screening of b-thalassemia while the other 2 cases were referred to us for a diagnostic work up.

show abstract

Section: Discussionsupporting

confidence: 48%

Five Rare β Globin Chain Hemoglobin Variants in India

Colah

Nadkarni

Gorakshakar

et al. 2016

Indian J Hematol Blood Transfus

View full text Add to dashboard Cite

show abstract

“…The α2-globin gene in Hb Constant Spring and Hb Seal Rock, however, has another stop signal between the original stop codon and poly(A) signal. As a result, an elongated polypeptide is observed in these patients (Clegg et al 1971;Kosasih et al 1988;Merritt et al 1997). A novel mutation found recently in the adenine phosphoribosyl-transferase (APRT) gene also abolished the original stop codon through a point mutation event.…”

Section: Discussionmentioning

confidence: 96%

Molecular analysis of the human orosomucoid gene ORM1*Q0 köln responsible for incompatibility in a German paternity case

Nakamura

Yuasa

Umetsu

et al. 2000

International Journal of Legal Medicine

View full text Add to dashboard Cite

In a German paternity test, an alleged father was excluded only by reverse homozygosity of ORM1 phenotypes (mother ORM1 S, child ORM1 S and alleged father ORM1 F1) out of the 28 classical and DNA markers investigated. Without the ORM1 system the biostatistical probability of paternity was calculated to exceed 99.999%. The intensity of the immunoprinted bands of the ORM1 protein for the child and alleged father after isoelectric focusing appeared to be reduced to about half. To identify a possible null allele, gene-specific amplification followed by single-strand conformation polymorphism and sequencing analyses were carried out. Deletion of one of the two copies of a 4 bp direct repeat sequence (GTCT) in exon 4 of the consensus sequence of ORM1*F1 was observed in the child and alleged father. Thus, the sharing of a rare mutant gene, ORM1*Q0köln, increased the probability of paternity.

show abstract

“…One of them was clinically mild, while the clinical phenotypes of the other two cases were not mentioned [18,20]. Hemoglobin Seal Rock results from a mutation in the upstream α2 gene, reducing the expression of one of the α2-globin genes causing a more pronounced thalassemia effect than deletion or reduced expression of the α-globin gene [32]. This mutation was identified in 2 Hb H disease cases, one co-inheriting Hb Seal Rock along with a two gene deletion presenting severely and the other co-inherited with the -α 3.7 deletion with a mild clinical presentation [15].…”

Section: Discussionmentioning

confidence: 99%

Molecular Heterogeneity of Hb H Disease in India

Thaker

Mahajan

Mukherjee

et al. 2022

Thalassemia Reports

View full text Add to dashboard Cite

Alpha thalassemia is an autosomal recessive disorder caused by large deletions and/or point mutations in the α- globin genes. Hemoglobin H (Hb H) disease is most frequently due to deletion of three of the four α globin genes associated with variable clinical severity depending on the genotype. There are few reports on Hb H disease in Indians where genotyping has been done and we have reviewed the molecular and clinical heterogeneity of these cases. An electronic search for relevant articles was conducted using two journal databases, i.e., PubMed and Science Direct using the key words “Hb H Disease”, “Hemoglobin H”, “α-thalassemia”, “mutations”, “molecular heterogeneity”, “case reports” and “India”. This review was performed based on preferred reporting items for the systematic review and meta-analysis protocols (PRISMA-P) guidelines. The molecular spectrum of Hb H disease in Indians includes the most common [-α3.7, -α4.2, --SA, Poly A (AATAAA→AATA--), Hb Sallanches], rare [--SEA, --MED, IVS 1nt 1 (G→A), Hb Koya Dora, Hb Sun Prairie], very rare [Hb Iberia, Hb Seal Rock, Hb Zürich-Albisrieden] and novel [Codon 76 (+T) and --Kol] α-globin gene mutations inherited largely as compound heterozygotes with considerable clinical variability. The molecular diagnosis of Hb H disease is important for genetic counseling and management.

show abstract

HB Seal Rock [(α2)142 Term→glu, Codon 142 TAA→GAA]: An Extended α Chain Variant Associated with Anemia, Microcytosis, and α-Thalassemia-2 (-3.7 KB)

Cited by 21 publications

References 22 publications

Five Rare β Globin Chain Hemoglobin Variants in India

Five Rare β Globin Chain Hemoglobin Variants in India

Molecular analysis of the human orosomucoid gene ORM1*Q0 köln responsible for incompatibility in a German paternity case

Molecular Heterogeneity of Hb H Disease in India

Contact Info

Product

Resources

About