Abstract
Introduction: Both coinheritance of thalassemic δ-globin mutation and coexistence of iron deficiency anemia (IDA) tend to decrease HbA2 (α2δ2) level and thereby poses a diagnostic conundrum in β-thalassemia trait. Methods: We retrospectively studied 78 Omani subjects, presenting with low HbA2 level by high-performance liquid chromatography (HPLC), and their DNA was sequenced for the presence of mutations in the δ-globin gene (HBD). In these subjects, their serum ferritin levels allowed evaluation of the degree of iron deficiency. Results: Overall, six different δ-globin gene mutations were observed in 40 study subjects (51.3%) and IDA in 33 subjects, with the remaining five subjects showing normal HBD sequence and serum ferritin level. Among the subjects with δ-globin gene mutations, seven had an associated IDA confirmed by significantly low serum ferritin levels. Heterozygosity for the delta (+) cd27G-->T mutation (HbA2-Yialousa; HBD: c.82G>T) was the most common abnormality observed (n = 26, 66.6%) followed by heterozygosity for HBD c.-118C->T (d -68 C->T) (n = 6, 15.4%), for cd16G-->C (n = 4, 10.3%), for cd98G-->A (n = 2, 5.1%), for cd142G-->C (n = 1, 2.6%), and for cd147G-->T (n = 1, 2.6%). Conclusions: These delta mutations exhibit low HbA2 either due to a shift in the HPLC position or due to their bona fide thalassemic feature. Two mutations, namely cd142 G-->C (GCC to CCC, Ala to Pro) and stop codon cd147 G-->T (stop to Leu with elongation of 15 amino acids), herein first reported are novel. Coexistence of IDA could lead to erroneous diagnostic interpretation unless it is specifically looked for.
| Original language | English |
|---|---|
| Pages (from-to) | 238-243 |
| Number of pages | 6 |
| Journal | International Journal of Laboratory Hematology |
| Volume | 37 |
| Issue number | 2 |
| DOIs | |
| Publication status | Published - Apr 1 2015 |
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Keywords
- Alpha
- Beta
- Delta
- Mutation
- Novel
- Omani
- Thalassemia
- δ-Globin gene
ASJC Scopus subject areas
- Clinical Biochemistry
- Biochemistry, medical
- Hematology
Cite this
First report of the spectrum of δ-globin gene mutations in Omani subjects - identification of novel mutations. / Alzadjali, S.; Daar, S.; Ambusaidi, R.; Gravell, D.; Al Haddabi, H.; Krishnamoorthy, R.; Pathare, A.
In: International Journal of Laboratory Hematology, Vol. 37, No. 2, 01.04.2015, p. 238-243.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - First report of the spectrum of δ-globin gene mutations in Omani subjects - identification of novel mutations
AU - Alzadjali, S.
AU - Daar, S.
AU - Ambusaidi, R.
AU - Gravell, D.
AU - Al Haddabi, H.
AU - Krishnamoorthy, R.
AU - Pathare, A.
PY - 2015/4/1
Y1 - 2015/4/1
N2 - Introduction: Both coinheritance of thalassemic δ-globin mutation and coexistence of iron deficiency anemia (IDA) tend to decrease HbA2 (α2δ2) level and thereby poses a diagnostic conundrum in β-thalassemia trait. Methods: We retrospectively studied 78 Omani subjects, presenting with low HbA2 level by high-performance liquid chromatography (HPLC), and their DNA was sequenced for the presence of mutations in the δ-globin gene (HBD). In these subjects, their serum ferritin levels allowed evaluation of the degree of iron deficiency. Results: Overall, six different δ-globin gene mutations were observed in 40 study subjects (51.3%) and IDA in 33 subjects, with the remaining five subjects showing normal HBD sequence and serum ferritin level. Among the subjects with δ-globin gene mutations, seven had an associated IDA confirmed by significantly low serum ferritin levels. Heterozygosity for the delta (+) cd27G-->T mutation (HbA2-Yialousa; HBD: c.82G>T) was the most common abnormality observed (n = 26, 66.6%) followed by heterozygosity for HBD c.-118C->T (d -68 C->T) (n = 6, 15.4%), for cd16G-->C (n = 4, 10.3%), for cd98G-->A (n = 2, 5.1%), for cd142G-->C (n = 1, 2.6%), and for cd147G-->T (n = 1, 2.6%). Conclusions: These delta mutations exhibit low HbA2 either due to a shift in the HPLC position or due to their bona fide thalassemic feature. Two mutations, namely cd142 G-->C (GCC to CCC, Ala to Pro) and stop codon cd147 G-->T (stop to Leu with elongation of 15 amino acids), herein first reported are novel. Coexistence of IDA could lead to erroneous diagnostic interpretation unless it is specifically looked for.
AB - Introduction: Both coinheritance of thalassemic δ-globin mutation and coexistence of iron deficiency anemia (IDA) tend to decrease HbA2 (α2δ2) level and thereby poses a diagnostic conundrum in β-thalassemia trait. Methods: We retrospectively studied 78 Omani subjects, presenting with low HbA2 level by high-performance liquid chromatography (HPLC), and their DNA was sequenced for the presence of mutations in the δ-globin gene (HBD). In these subjects, their serum ferritin levels allowed evaluation of the degree of iron deficiency. Results: Overall, six different δ-globin gene mutations were observed in 40 study subjects (51.3%) and IDA in 33 subjects, with the remaining five subjects showing normal HBD sequence and serum ferritin level. Among the subjects with δ-globin gene mutations, seven had an associated IDA confirmed by significantly low serum ferritin levels. Heterozygosity for the delta (+) cd27G-->T mutation (HbA2-Yialousa; HBD: c.82G>T) was the most common abnormality observed (n = 26, 66.6%) followed by heterozygosity for HBD c.-118C->T (d -68 C->T) (n = 6, 15.4%), for cd16G-->C (n = 4, 10.3%), for cd98G-->A (n = 2, 5.1%), for cd142G-->C (n = 1, 2.6%), and for cd147G-->T (n = 1, 2.6%). Conclusions: These delta mutations exhibit low HbA2 either due to a shift in the HPLC position or due to their bona fide thalassemic feature. Two mutations, namely cd142 G-->C (GCC to CCC, Ala to Pro) and stop codon cd147 G-->T (stop to Leu with elongation of 15 amino acids), herein first reported are novel. Coexistence of IDA could lead to erroneous diagnostic interpretation unless it is specifically looked for.
KW - Alpha
KW - Beta
KW - Delta
KW - Mutation
KW - Novel
KW - Omani
KW - Thalassemia
KW - δ-Globin gene
UR - http://www.scopus.com/inward/record.url?scp=84924800659&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84924800659&partnerID=8YFLogxK
U2 - 10.1111/ijlh.12272
DO - 10.1111/ijlh.12272
M3 - Article
VL - 37
SP - 238
EP - 243
JO - International Journal of Laboratory Hematology
JF - International Journal of Laboratory Hematology
SN - 1751-5521
IS - 2
ER -