IVSII-74 T>G: As harmless as we thought?
Background IVSII-74 T > G is one of the most frequently identified polymorphic sites on the β-globin gene. In our report, we present three cases with low mean corpuscular volume (MCV) value in three and high red blood cell (RBC) value in two of the cases. The objective of this study was to further analyse the reason for condition of three patients, who were referred for the investigation of persistent anemia. Materials and Methods Following the HPLC analyses of Hb migration pattern, direct nucleotide sequencing of α- and β-globin genes was performed for all cases. Results The common finding was the homozygosity for the intronic change, IVSII-74 T > G. Conclusion In the intersection point of the variations on our patients, we claim a homozygous change at position 74 on the intron II of the β-globin gene alone may be sufficient to cause a β-thalassemia carrier phenotype..
| Medienart: |
E-Artikel |
|---|
| Erscheinungsjahr: |
2019 |
|---|---|
| Erschienen: |
2019 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:44 |
|---|---|
| Enthalten in: |
Turkish journal of biochemistry - 44(2019), 1 vom: 16. März, Seite 41-46 |
| Sprache: |
Englisch |
|---|
| Beteiligte Personen: |
Hocaoglu-Emre, F. Sinem [VerfasserIn] |
|---|
| Links: |
Volltext [lizenzpflichtig] |
|---|
| BKL: |
|---|
| Anmerkungen: |
©2019 Walter de Gruyter GmbH, Berlin/Boston |
|---|
| doi: |
10.1515/tjb-2018-0332 |
|---|
| funding: |
|
|---|---|
| Förderinstitution / Projekttitel: |
|
| PPN (Katalog-ID): |
GRUY006642128 |
|---|
| LEADER | 01000caa a22002652 4500 | ||
|---|---|---|---|
| 001 | GRUY006642128 | ||
| 003 | DE-627 | ||
| 005 | 20231205155935.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 230810s2019 xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.1515/tjb-2018-0332 |2 doi | |
| 035 | |a (DE-627)GRUY006642128 | ||
| 035 | |a (DE-B1597)tjb-2018-0332-e | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rakwb | ||
| 041 | |a eng | ||
| 082 | 0 | 4 | |a 540 |q VZ |
| 084 | |a 35.70 |2 bkl | ||
| 100 | 1 | |a Hocaoglu-Emre, F. Sinem |e verfasserin |0 (orcid)0000-0003-2557-7378 |4 aut | |
| 245 | 1 | 0 | |a IVSII-74 T>G: As harmless as we thought? |
| 264 | 1 | |c 2019 | |
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a Computermedien |b c |2 rdamedia | ||
| 338 | |a Online-Ressource |b cr |2 rdacarrier | ||
| 500 | |a ©2019 Walter de Gruyter GmbH, Berlin/Boston | ||
| 520 | |a Background IVSII-74 T > G is one of the most frequently identified polymorphic sites on the β-globin gene. In our report, we present three cases with low mean corpuscular volume (MCV) value in three and high red blood cell (RBC) value in two of the cases. The objective of this study was to further analyse the reason for condition of three patients, who were referred for the investigation of persistent anemia. Materials and Methods Following the HPLC analyses of Hb migration pattern, direct nucleotide sequencing of α- and β-globin genes was performed for all cases. Results The common finding was the homozygosity for the intronic change, IVSII-74 T > G. Conclusion In the intersection point of the variations on our patients, we claim a homozygous change at position 74 on the intron II of the β-globin gene alone may be sufficient to cause a β-thalassemia carrier phenotype. | ||
| 700 | 1 | |a Yenmis, Guven |4 aut | |
| 700 | 1 | |a Saribal, Devrim |4 aut | |
| 700 | 1 | |a Yakicier, Cengiz |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t Turkish journal of biochemistry |d De Gruyter, 2006 |g 44(2019), 1 vom: 16. März, Seite 41-46 |h Online-Ressource |w (DE-627)GRUY000024651 |w (DE-600)2244112-8 |w (DE-576)281315086 |x 1303-829X |7 nnns |
| 773 | 1 | 8 | |g volume:44 |g year:2019 |g number:1 |g day:16 |g month:03 |g pages:41-46 |
| 856 | 4 | 0 | |u https://dx.doi.org/10.1515/tjb-2018-0332 |z lizenzpflichtig |3 Volltext |
| 912 | |a GBV_GRUY | ||
| 912 | |a SSG-OLC-PHA | ||
| 936 | b | k | |a 35.70 |j Biochemie: Allgemeines |q VZ |
| 951 | |a AR | ||
| 952 | |d 44 |j 2019 |e 1 |b 16 |c 03 |h 41-46 | ||