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Kanokwan Sanchaisuriya - One of the best experts on this subject based on the ideXlab platform.

  • HEmoglobin ProfilEs and HEmatologic FEaturEs of ThalassEmic NEwborns: Application to ScrEEning of α-ThalassEmia 1 and HEmoglobin E
    Archives of Pathology & Laboratory Medicine, 2008
    Co-Authors: Jaruwan Tritipsombut, Kanokwan Sanchaisuriya, Supan Fucharoen, Goonnapa Fucharoen, Nirut Siriratmanawong, Charnchai Pinmuang-ngam, Pattara Sanchaisuriya
    Abstract:

    Abstract ContExt.—ThalassEmia and HEmoglobinopathiEs arE major public hEalth problEms worldwidE. To Establish a cost-EffEctivE scrEEning tool for nEwborns in rEgions whErE thE incidEncE of thEsE disordErs is significant, study of thE HEmoglobin and hEmatologic fEaturEs of normal and thalassEmic nEwborns is nEcEssary. ObjEctivE.—To study HEmoglobin and hEmatologic charactEristics of normal and various thalassEmic nEwborns and to assEss thE EffEctivEnEss of simplE scrEEning mEthods for α-thalassEmia 1 and HEmoglobin E. DEsign.—Study was madE of 402 cord blood spEcimEns collEctEd from unrElatEd Thai individuals. HEmatologic paramEtErs and HEmoglobin profilEs wErE dEtErminEd. ThalassEmia mutations wErE idEntifiEd using polymErasE chain rEaction–rElatEd tEchniquEs. REsults.—As many as 178 subjEcts (44.3%) wErE found to carry thalassEmia gEnEs with 18 diffErEnt gEnotypEs. All forms of α-thalassEmia including doublE hEtErozygotE for HEmoglobin E and α-thalassEmia showEd significant rEduction in HEmoglobin, mEan corpuscular volumE, and mEan corpuscular HEmoglobin with incrEasing trEnd of rEd blood cEll as comparEd with a non–α-thalassEmic group. Although hEtErozygous HEmoglobin E and β-thalassEmia showEd no hEmatologic diffErEncE from nonthalassEmic group, hEtErozygous α-thalassEmia 1 including thosE with HEmoglobin E showEd significant incrEasE in HEmoglobin Bart lEvEl. Conclusions.—BasEd on thEsE findings, EffEctivE primary scrEEning with 100% accuracy for α-thalassEmia 1 and HEmoglobin E in nEwborns in thE rEgion could bE carriEd out using mEan corpuscular volumE lEss than 95 fL, mEan corpuscular HEmoglobin lEss than 30 pg, or HEmoglobin Bart grEatEr than 8.0% and HEmoglobin E grEatEr than 0.5%, rEspEctivEly.

  • HEmoglobin ProfilEs and HEmatologic FEaturEs of ThalassEmic NEwborns: Application to ScrEEning of α-ThalassEmia 1 and HEmoglobin E
    Archives of pathology & laboratory medicine, 2008
    Co-Authors: Jaruwan Tritipsombut, Kanokwan Sanchaisuriya, Supan Fucharoen, Goonnapa Fucharoen, Nirut Siriratmanawong, Charnchai Pinmuang-ngam, Pattara Sanchaisuriya
    Abstract:

    Abstract ContExt.—ThalassEmia and HEmoglobinopathiEs arE major public hEalth problEms worldwidE. To Establish a cost-EffEctivE scrEEning tool for nEwborns in rEgions whErE thE incidEncE of thEsE disordErs is significant, study of thE HEmoglobin and hEmatologic fEaturEs of normal and thalassEmic nEwborns is nEcEssary. ObjEctivE.—To study HEmoglobin and hEmatologic charactEristics of normal and various thalassEmic nEwborns and to assEss thE EffEctivEnEss of simplE scrEEning mEthods for α-thalassEmia 1 and HEmoglobin E. DEsign.—Study was madE of 402 cord blood spEcimEns collEctEd from unrElatEd Thai individuals. HEmatologic paramEtErs and HEmoglobin profilEs wErE dEtErminEd. ThalassEmia mutations wErE idEntifiEd using polymErasE chain rEaction–rElatEd tEchniquEs. REsults.—As many as 178 subjEcts (44.3%) wErE found to carry thalassEmia gEnEs with 18 diffErEnt gEnotypEs. All forms of α-thalassEmia including doublE hEtErozygotE for HEmoglobin E and α-thalassEmia showEd significant rEduction in HEmoglobin, mEan ...

  • prEnatal dEtEction of fEtal HEmoglobin E gEnE from matErnal plasma
    Prenatal Diagnosis, 2003
    Co-Authors: Goonnapa Fucharoen, Kanokwan Sanchaisuriya, Warunee Tungwiwat, Thawalwong Ratanasiri, Supan Fucharoen
    Abstract:

    In ordEr to providE a noninvasivE prEnatal diagnosis of thE HEmoglobin E (Hb E) rElatEd disordEr, wE havE EvaluatEd thE possibility of idEntifying thE fEtal bEta(E)-globin gEnE in matErnal plasma. ThE analysis was pErformEd during 8 to 18 wEEks of gEstation using DNA ExtractEd from 200 micro L of plasma from prEgnant womEn whosE husbands carriEd Hb E. ThE bEta(E)-globin mutation in matErnal plasma was dEtEctEd by a nEstEd PCR amplification followEd by thE Mnl I rEstriction analysis. ThE rEsult was comparEd with that of routinE analysis of thE CVS spEcimEns. Among thE fivE prEgnant womEn ExaminEd, thE fEtal bEta(E)-globin gEnE was idEntifiEd in matErnal plasma in thrEE of thEm and thE rEsult was complEtEly concordant with thE convEntional CVS analysis. This simplE noninvasivE prEnatal dEtEction of thE fEtal bEta(E)-globin gEnE should provE usEful in a prEvEntion and control program of Hb E/bEta-thalassEmia in countriEs whErE thE bEta(E)-globin gEnE is prEvalEnt.

  • MolEcular charactErization of (δβ)°/β°-thalassEmia and (δβ)°-thalassEmia/HEmoglobin E in Thai patiEnts
    European journal of haematology, 2001
    Co-Authors: Supan Fucharoen, Goonnapa Fucharoen, Yutthana Pengjam, Satja Surapot, Kanokwan Sanchaisuriya
    Abstract:

    Two casEs of thE Thai thalassEmia patiEnts with compound hEtErozygositiEs for (dEltabEta)(0)/bEta(0)-thalassEmia and (dEltabEta)(0)-thalassEmia/HEmoglobin E havE bEEn rEportEd. ThE first casE was a 8-yr-old boy who had thE following hEmatologic data: Hb 6.5 g/dL, Hct 20.5%, MCV 70.4 fL, MCH 22.3 pg and MCHC 31.7 g/dL. HEmoglobin analysis rEvEalEd 1.9% HEmoglobin A2 and 91.7% HEmoglobin F. ThE sEcond casE, with Hb 13.9 g/dL, Hct 41.5%, MCV 69.5 fL, MCH 22.5 pg and MCHC 32.2 g/dL, was a 16-yr-old malE who had 46.1% HEmoglobin E and 49.8% HEmoglobin F. Globin gEnE analysEs showEd that both probands carriEd thE samE dElEtional typE (dEltabEta)(0)-thalassEmia trans to thE 4 bp dElEtions in codons 41/42 bEta(0)-thalassEmia and to thE bEtaE-globin gEnE, rEspEctivEly. PolymErasE chain rEaction and DNA sEquEncE analysEs dEmonstratEd that thE 5' brEakpoint of thE (dEltabEta)(0)-thalassEmia dElEtion was locatEd in thE sEcond intron of thE dElta-globin gEnE and that thE 3' brEakpoint lay within a clustEr of LI rEpEtitivE sEquEncEs at 4.7 kb 3' to thE bEta-globin gEnE.

Supan Fucharoen - One of the best experts on this subject based on the ideXlab platform.

  • HEmoglobin ProfilEs and HEmatologic FEaturEs of ThalassEmic NEwborns: Application to ScrEEning of α-ThalassEmia 1 and HEmoglobin E
    Archives of Pathology & Laboratory Medicine, 2008
    Co-Authors: Jaruwan Tritipsombut, Kanokwan Sanchaisuriya, Supan Fucharoen, Goonnapa Fucharoen, Nirut Siriratmanawong, Charnchai Pinmuang-ngam, Pattara Sanchaisuriya
    Abstract:

    Abstract ContExt.—ThalassEmia and HEmoglobinopathiEs arE major public hEalth problEms worldwidE. To Establish a cost-EffEctivE scrEEning tool for nEwborns in rEgions whErE thE incidEncE of thEsE disordErs is significant, study of thE HEmoglobin and hEmatologic fEaturEs of normal and thalassEmic nEwborns is nEcEssary. ObjEctivE.—To study HEmoglobin and hEmatologic charactEristics of normal and various thalassEmic nEwborns and to assEss thE EffEctivEnEss of simplE scrEEning mEthods for α-thalassEmia 1 and HEmoglobin E. DEsign.—Study was madE of 402 cord blood spEcimEns collEctEd from unrElatEd Thai individuals. HEmatologic paramEtErs and HEmoglobin profilEs wErE dEtErminEd. ThalassEmia mutations wErE idEntifiEd using polymErasE chain rEaction–rElatEd tEchniquEs. REsults.—As many as 178 subjEcts (44.3%) wErE found to carry thalassEmia gEnEs with 18 diffErEnt gEnotypEs. All forms of α-thalassEmia including doublE hEtErozygotE for HEmoglobin E and α-thalassEmia showEd significant rEduction in HEmoglobin, mEan corpuscular volumE, and mEan corpuscular HEmoglobin with incrEasing trEnd of rEd blood cEll as comparEd with a non–α-thalassEmic group. Although hEtErozygous HEmoglobin E and β-thalassEmia showEd no hEmatologic diffErEncE from nonthalassEmic group, hEtErozygous α-thalassEmia 1 including thosE with HEmoglobin E showEd significant incrEasE in HEmoglobin Bart lEvEl. Conclusions.—BasEd on thEsE findings, EffEctivE primary scrEEning with 100% accuracy for α-thalassEmia 1 and HEmoglobin E in nEwborns in thE rEgion could bE carriEd out using mEan corpuscular volumE lEss than 95 fL, mEan corpuscular HEmoglobin lEss than 30 pg, or HEmoglobin Bart grEatEr than 8.0% and HEmoglobin E grEatEr than 0.5%, rEspEctivEly.

  • HEmoglobin ProfilEs and HEmatologic FEaturEs of ThalassEmic NEwborns: Application to ScrEEning of α-ThalassEmia 1 and HEmoglobin E
    Archives of pathology & laboratory medicine, 2008
    Co-Authors: Jaruwan Tritipsombut, Kanokwan Sanchaisuriya, Supan Fucharoen, Goonnapa Fucharoen, Nirut Siriratmanawong, Charnchai Pinmuang-ngam, Pattara Sanchaisuriya
    Abstract:

    Abstract ContExt.—ThalassEmia and HEmoglobinopathiEs arE major public hEalth problEms worldwidE. To Establish a cost-EffEctivE scrEEning tool for nEwborns in rEgions whErE thE incidEncE of thEsE disordErs is significant, study of thE HEmoglobin and hEmatologic fEaturEs of normal and thalassEmic nEwborns is nEcEssary. ObjEctivE.—To study HEmoglobin and hEmatologic charactEristics of normal and various thalassEmic nEwborns and to assEss thE EffEctivEnEss of simplE scrEEning mEthods for α-thalassEmia 1 and HEmoglobin E. DEsign.—Study was madE of 402 cord blood spEcimEns collEctEd from unrElatEd Thai individuals. HEmatologic paramEtErs and HEmoglobin profilEs wErE dEtErminEd. ThalassEmia mutations wErE idEntifiEd using polymErasE chain rEaction–rElatEd tEchniquEs. REsults.—As many as 178 subjEcts (44.3%) wErE found to carry thalassEmia gEnEs with 18 diffErEnt gEnotypEs. All forms of α-thalassEmia including doublE hEtErozygotE for HEmoglobin E and α-thalassEmia showEd significant rEduction in HEmoglobin, mEan ...

  • prEnatal dEtEction of fEtal HEmoglobin E gEnE from matErnal plasma
    Prenatal Diagnosis, 2003
    Co-Authors: Goonnapa Fucharoen, Kanokwan Sanchaisuriya, Warunee Tungwiwat, Thawalwong Ratanasiri, Supan Fucharoen
    Abstract:

    In ordEr to providE a noninvasivE prEnatal diagnosis of thE HEmoglobin E (Hb E) rElatEd disordEr, wE havE EvaluatEd thE possibility of idEntifying thE fEtal bEta(E)-globin gEnE in matErnal plasma. ThE analysis was pErformEd during 8 to 18 wEEks of gEstation using DNA ExtractEd from 200 micro L of plasma from prEgnant womEn whosE husbands carriEd Hb E. ThE bEta(E)-globin mutation in matErnal plasma was dEtEctEd by a nEstEd PCR amplification followEd by thE Mnl I rEstriction analysis. ThE rEsult was comparEd with that of routinE analysis of thE CVS spEcimEns. Among thE fivE prEgnant womEn ExaminEd, thE fEtal bEta(E)-globin gEnE was idEntifiEd in matErnal plasma in thrEE of thEm and thE rEsult was complEtEly concordant with thE convEntional CVS analysis. This simplE noninvasivE prEnatal dEtEction of thE fEtal bEta(E)-globin gEnE should provE usEful in a prEvEntion and control program of Hb E/bEta-thalassEmia in countriEs whErE thE bEta(E)-globin gEnE is prEvalEnt.

  • MolEcular charactErization of (δβ)°/β°-thalassEmia and (δβ)°-thalassEmia/HEmoglobin E in Thai patiEnts
    European journal of haematology, 2001
    Co-Authors: Supan Fucharoen, Goonnapa Fucharoen, Yutthana Pengjam, Satja Surapot, Kanokwan Sanchaisuriya
    Abstract:

    Two casEs of thE Thai thalassEmia patiEnts with compound hEtErozygositiEs for (dEltabEta)(0)/bEta(0)-thalassEmia and (dEltabEta)(0)-thalassEmia/HEmoglobin E havE bEEn rEportEd. ThE first casE was a 8-yr-old boy who had thE following hEmatologic data: Hb 6.5 g/dL, Hct 20.5%, MCV 70.4 fL, MCH 22.3 pg and MCHC 31.7 g/dL. HEmoglobin analysis rEvEalEd 1.9% HEmoglobin A2 and 91.7% HEmoglobin F. ThE sEcond casE, with Hb 13.9 g/dL, Hct 41.5%, MCV 69.5 fL, MCH 22.5 pg and MCHC 32.2 g/dL, was a 16-yr-old malE who had 46.1% HEmoglobin E and 49.8% HEmoglobin F. Globin gEnE analysEs showEd that both probands carriEd thE samE dElEtional typE (dEltabEta)(0)-thalassEmia trans to thE 4 bp dElEtions in codons 41/42 bEta(0)-thalassEmia and to thE bEtaE-globin gEnE, rEspEctivEly. PolymErasE chain rEaction and DNA sEquEncE analysEs dEmonstratEd that thE 5' brEakpoint of thE (dEltabEta)(0)-thalassEmia dElEtion was locatEd in thE sEcond intron of thE dElta-globin gEnE and that thE 3' brEakpoint lay within a clustEr of LI rEpEtitivE sEquEncEs at 4.7 kb 3' to thE bEta-globin gEnE.

  • ExprEssion of HEmoglobin E in nEwborn.
    The Southeast Asian journal of tropical medicine and public health, 1995
    Co-Authors: Nattaya Sae-ung, Goonnapa Fucharoen, Supan Fucharoen
    Abstract:

    HEmoglobin E(HbE) is an abnormal HEmoglobin rEsultEd from a point mutation in codon 26 (GAG-AAG) of bEta-globin gEnE. ThE mutation causEs an amino acid substitution (Glu-Lys) and abnormal splicing in Exon 1 that rEducE thE amount of bEta E chain synthEsis. WhilE in adult, thE HbE can Easily bE diagnosEd, its lEvEl in nEwborn is usually undErrEprEsEnt. In this study, wE ExaminEd a rElationship bEtwEEn gEnotypE of HbE and thE amount of HbE in cord blood. 145 Cord blood spEcimEns wErE analysEd by starch gEl ElEctrophorEsis and thE amounts of HbE wErE dEtErminEd by microcolumn chromatography. ThE zygosity of bEta E globin gEnE was dEtErminEd by thE polymErasE chain rEaction. ThE lEvEls of HbE wErE 3.17 +/- 1.79% for 59 hEtErozygotEs, 8.55 +/- 2.52% for 3 homozygotEs and 0.48 +/- 0.22% in 83 normal nEwborns. This rEsult providEs usEful data for a nEonatal scrEEning program and impliEs that ExprEssion of HbE in nEwborn dEpEndEnt on a copy numbEr of bEta E globin gEnE in Each individual.

Pattara Sanchaisuriya - One of the best experts on this subject based on the ideXlab platform.

  • HEmoglobin ProfilEs and HEmatologic FEaturEs of ThalassEmic NEwborns: Application to ScrEEning of α-ThalassEmia 1 and HEmoglobin E
    Archives of Pathology & Laboratory Medicine, 2008
    Co-Authors: Jaruwan Tritipsombut, Kanokwan Sanchaisuriya, Supan Fucharoen, Goonnapa Fucharoen, Nirut Siriratmanawong, Charnchai Pinmuang-ngam, Pattara Sanchaisuriya
    Abstract:

    Abstract ContExt.—ThalassEmia and HEmoglobinopathiEs arE major public hEalth problEms worldwidE. To Establish a cost-EffEctivE scrEEning tool for nEwborns in rEgions whErE thE incidEncE of thEsE disordErs is significant, study of thE HEmoglobin and hEmatologic fEaturEs of normal and thalassEmic nEwborns is nEcEssary. ObjEctivE.—To study HEmoglobin and hEmatologic charactEristics of normal and various thalassEmic nEwborns and to assEss thE EffEctivEnEss of simplE scrEEning mEthods for α-thalassEmia 1 and HEmoglobin E. DEsign.—Study was madE of 402 cord blood spEcimEns collEctEd from unrElatEd Thai individuals. HEmatologic paramEtErs and HEmoglobin profilEs wErE dEtErminEd. ThalassEmia mutations wErE idEntifiEd using polymErasE chain rEaction–rElatEd tEchniquEs. REsults.—As many as 178 subjEcts (44.3%) wErE found to carry thalassEmia gEnEs with 18 diffErEnt gEnotypEs. All forms of α-thalassEmia including doublE hEtErozygotE for HEmoglobin E and α-thalassEmia showEd significant rEduction in HEmoglobin, mEan corpuscular volumE, and mEan corpuscular HEmoglobin with incrEasing trEnd of rEd blood cEll as comparEd with a non–α-thalassEmic group. Although hEtErozygous HEmoglobin E and β-thalassEmia showEd no hEmatologic diffErEncE from nonthalassEmic group, hEtErozygous α-thalassEmia 1 including thosE with HEmoglobin E showEd significant incrEasE in HEmoglobin Bart lEvEl. Conclusions.—BasEd on thEsE findings, EffEctivE primary scrEEning with 100% accuracy for α-thalassEmia 1 and HEmoglobin E in nEwborns in thE rEgion could bE carriEd out using mEan corpuscular volumE lEss than 95 fL, mEan corpuscular HEmoglobin lEss than 30 pg, or HEmoglobin Bart grEatEr than 8.0% and HEmoglobin E grEatEr than 0.5%, rEspEctivEly.

  • HEmoglobin ProfilEs and HEmatologic FEaturEs of ThalassEmic NEwborns: Application to ScrEEning of α-ThalassEmia 1 and HEmoglobin E
    Archives of pathology & laboratory medicine, 2008
    Co-Authors: Jaruwan Tritipsombut, Kanokwan Sanchaisuriya, Supan Fucharoen, Goonnapa Fucharoen, Nirut Siriratmanawong, Charnchai Pinmuang-ngam, Pattara Sanchaisuriya
    Abstract:

    Abstract ContExt.—ThalassEmia and HEmoglobinopathiEs arE major public hEalth problEms worldwidE. To Establish a cost-EffEctivE scrEEning tool for nEwborns in rEgions whErE thE incidEncE of thEsE disordErs is significant, study of thE HEmoglobin and hEmatologic fEaturEs of normal and thalassEmic nEwborns is nEcEssary. ObjEctivE.—To study HEmoglobin and hEmatologic charactEristics of normal and various thalassEmic nEwborns and to assEss thE EffEctivEnEss of simplE scrEEning mEthods for α-thalassEmia 1 and HEmoglobin E. DEsign.—Study was madE of 402 cord blood spEcimEns collEctEd from unrElatEd Thai individuals. HEmatologic paramEtErs and HEmoglobin profilEs wErE dEtErminEd. ThalassEmia mutations wErE idEntifiEd using polymErasE chain rEaction–rElatEd tEchniquEs. REsults.—As many as 178 subjEcts (44.3%) wErE found to carry thalassEmia gEnEs with 18 diffErEnt gEnotypEs. All forms of α-thalassEmia including doublE hEtErozygotE for HEmoglobin E and α-thalassEmia showEd significant rEduction in HEmoglobin, mEan ...

Goonnapa Fucharoen - One of the best experts on this subject based on the ideXlab platform.

  • HEmoglobin ProfilEs and HEmatologic FEaturEs of ThalassEmic NEwborns: Application to ScrEEning of α-ThalassEmia 1 and HEmoglobin E
    Archives of Pathology & Laboratory Medicine, 2008
    Co-Authors: Jaruwan Tritipsombut, Kanokwan Sanchaisuriya, Supan Fucharoen, Goonnapa Fucharoen, Nirut Siriratmanawong, Charnchai Pinmuang-ngam, Pattara Sanchaisuriya
    Abstract:

    Abstract ContExt.—ThalassEmia and HEmoglobinopathiEs arE major public hEalth problEms worldwidE. To Establish a cost-EffEctivE scrEEning tool for nEwborns in rEgions whErE thE incidEncE of thEsE disordErs is significant, study of thE HEmoglobin and hEmatologic fEaturEs of normal and thalassEmic nEwborns is nEcEssary. ObjEctivE.—To study HEmoglobin and hEmatologic charactEristics of normal and various thalassEmic nEwborns and to assEss thE EffEctivEnEss of simplE scrEEning mEthods for α-thalassEmia 1 and HEmoglobin E. DEsign.—Study was madE of 402 cord blood spEcimEns collEctEd from unrElatEd Thai individuals. HEmatologic paramEtErs and HEmoglobin profilEs wErE dEtErminEd. ThalassEmia mutations wErE idEntifiEd using polymErasE chain rEaction–rElatEd tEchniquEs. REsults.—As many as 178 subjEcts (44.3%) wErE found to carry thalassEmia gEnEs with 18 diffErEnt gEnotypEs. All forms of α-thalassEmia including doublE hEtErozygotE for HEmoglobin E and α-thalassEmia showEd significant rEduction in HEmoglobin, mEan corpuscular volumE, and mEan corpuscular HEmoglobin with incrEasing trEnd of rEd blood cEll as comparEd with a non–α-thalassEmic group. Although hEtErozygous HEmoglobin E and β-thalassEmia showEd no hEmatologic diffErEncE from nonthalassEmic group, hEtErozygous α-thalassEmia 1 including thosE with HEmoglobin E showEd significant incrEasE in HEmoglobin Bart lEvEl. Conclusions.—BasEd on thEsE findings, EffEctivE primary scrEEning with 100% accuracy for α-thalassEmia 1 and HEmoglobin E in nEwborns in thE rEgion could bE carriEd out using mEan corpuscular volumE lEss than 95 fL, mEan corpuscular HEmoglobin lEss than 30 pg, or HEmoglobin Bart grEatEr than 8.0% and HEmoglobin E grEatEr than 0.5%, rEspEctivEly.

  • HEmoglobin ProfilEs and HEmatologic FEaturEs of ThalassEmic NEwborns: Application to ScrEEning of α-ThalassEmia 1 and HEmoglobin E
    Archives of pathology & laboratory medicine, 2008
    Co-Authors: Jaruwan Tritipsombut, Kanokwan Sanchaisuriya, Supan Fucharoen, Goonnapa Fucharoen, Nirut Siriratmanawong, Charnchai Pinmuang-ngam, Pattara Sanchaisuriya
    Abstract:

    Abstract ContExt.—ThalassEmia and HEmoglobinopathiEs arE major public hEalth problEms worldwidE. To Establish a cost-EffEctivE scrEEning tool for nEwborns in rEgions whErE thE incidEncE of thEsE disordErs is significant, study of thE HEmoglobin and hEmatologic fEaturEs of normal and thalassEmic nEwborns is nEcEssary. ObjEctivE.—To study HEmoglobin and hEmatologic charactEristics of normal and various thalassEmic nEwborns and to assEss thE EffEctivEnEss of simplE scrEEning mEthods for α-thalassEmia 1 and HEmoglobin E. DEsign.—Study was madE of 402 cord blood spEcimEns collEctEd from unrElatEd Thai individuals. HEmatologic paramEtErs and HEmoglobin profilEs wErE dEtErminEd. ThalassEmia mutations wErE idEntifiEd using polymErasE chain rEaction–rElatEd tEchniquEs. REsults.—As many as 178 subjEcts (44.3%) wErE found to carry thalassEmia gEnEs with 18 diffErEnt gEnotypEs. All forms of α-thalassEmia including doublE hEtErozygotE for HEmoglobin E and α-thalassEmia showEd significant rEduction in HEmoglobin, mEan ...

  • prEnatal dEtEction of fEtal HEmoglobin E gEnE from matErnal plasma
    Prenatal Diagnosis, 2003
    Co-Authors: Goonnapa Fucharoen, Kanokwan Sanchaisuriya, Warunee Tungwiwat, Thawalwong Ratanasiri, Supan Fucharoen
    Abstract:

    In ordEr to providE a noninvasivE prEnatal diagnosis of thE HEmoglobin E (Hb E) rElatEd disordEr, wE havE EvaluatEd thE possibility of idEntifying thE fEtal bEta(E)-globin gEnE in matErnal plasma. ThE analysis was pErformEd during 8 to 18 wEEks of gEstation using DNA ExtractEd from 200 micro L of plasma from prEgnant womEn whosE husbands carriEd Hb E. ThE bEta(E)-globin mutation in matErnal plasma was dEtEctEd by a nEstEd PCR amplification followEd by thE Mnl I rEstriction analysis. ThE rEsult was comparEd with that of routinE analysis of thE CVS spEcimEns. Among thE fivE prEgnant womEn ExaminEd, thE fEtal bEta(E)-globin gEnE was idEntifiEd in matErnal plasma in thrEE of thEm and thE rEsult was complEtEly concordant with thE convEntional CVS analysis. This simplE noninvasivE prEnatal dEtEction of thE fEtal bEta(E)-globin gEnE should provE usEful in a prEvEntion and control program of Hb E/bEta-thalassEmia in countriEs whErE thE bEta(E)-globin gEnE is prEvalEnt.

  • MolEcular charactErization of (δβ)°/β°-thalassEmia and (δβ)°-thalassEmia/HEmoglobin E in Thai patiEnts
    European journal of haematology, 2001
    Co-Authors: Supan Fucharoen, Goonnapa Fucharoen, Yutthana Pengjam, Satja Surapot, Kanokwan Sanchaisuriya
    Abstract:

    Two casEs of thE Thai thalassEmia patiEnts with compound hEtErozygositiEs for (dEltabEta)(0)/bEta(0)-thalassEmia and (dEltabEta)(0)-thalassEmia/HEmoglobin E havE bEEn rEportEd. ThE first casE was a 8-yr-old boy who had thE following hEmatologic data: Hb 6.5 g/dL, Hct 20.5%, MCV 70.4 fL, MCH 22.3 pg and MCHC 31.7 g/dL. HEmoglobin analysis rEvEalEd 1.9% HEmoglobin A2 and 91.7% HEmoglobin F. ThE sEcond casE, with Hb 13.9 g/dL, Hct 41.5%, MCV 69.5 fL, MCH 22.5 pg and MCHC 32.2 g/dL, was a 16-yr-old malE who had 46.1% HEmoglobin E and 49.8% HEmoglobin F. Globin gEnE analysEs showEd that both probands carriEd thE samE dElEtional typE (dEltabEta)(0)-thalassEmia trans to thE 4 bp dElEtions in codons 41/42 bEta(0)-thalassEmia and to thE bEtaE-globin gEnE, rEspEctivEly. PolymErasE chain rEaction and DNA sEquEncE analysEs dEmonstratEd that thE 5' brEakpoint of thE (dEltabEta)(0)-thalassEmia dElEtion was locatEd in thE sEcond intron of thE dElta-globin gEnE and that thE 3' brEakpoint lay within a clustEr of LI rEpEtitivE sEquEncEs at 4.7 kb 3' to thE bEta-globin gEnE.

  • ExprEssion of HEmoglobin E in nEwborn.
    The Southeast Asian journal of tropical medicine and public health, 1995
    Co-Authors: Nattaya Sae-ung, Goonnapa Fucharoen, Supan Fucharoen
    Abstract:

    HEmoglobin E(HbE) is an abnormal HEmoglobin rEsultEd from a point mutation in codon 26 (GAG-AAG) of bEta-globin gEnE. ThE mutation causEs an amino acid substitution (Glu-Lys) and abnormal splicing in Exon 1 that rEducE thE amount of bEta E chain synthEsis. WhilE in adult, thE HbE can Easily bE diagnosEd, its lEvEl in nEwborn is usually undErrEprEsEnt. In this study, wE ExaminEd a rElationship bEtwEEn gEnotypE of HbE and thE amount of HbE in cord blood. 145 Cord blood spEcimEns wErE analysEd by starch gEl ElEctrophorEsis and thE amounts of HbE wErE dEtErminEd by microcolumn chromatography. ThE zygosity of bEta E globin gEnE was dEtErminEd by thE polymErasE chain rEaction. ThE lEvEls of HbE wErE 3.17 +/- 1.79% for 59 hEtErozygotEs, 8.55 +/- 2.52% for 3 homozygotEs and 0.48 +/- 0.22% in 83 normal nEwborns. This rEsult providEs usEful data for a nEonatal scrEEning program and impliEs that ExprEssion of HbE in nEwborn dEpEndEnt on a copy numbEr of bEta E globin gEnE in Each individual.

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  • HEmoglobin ProfilEs and HEmatologic FEaturEs of ThalassEmic NEwborns: Application to ScrEEning of α-ThalassEmia 1 and HEmoglobin E
    Archives of Pathology & Laboratory Medicine, 2008
    Co-Authors: Jaruwan Tritipsombut, Kanokwan Sanchaisuriya, Supan Fucharoen, Goonnapa Fucharoen, Nirut Siriratmanawong, Charnchai Pinmuang-ngam, Pattara Sanchaisuriya
    Abstract:

    Abstract ContExt.—ThalassEmia and HEmoglobinopathiEs arE major public hEalth problEms worldwidE. To Establish a cost-EffEctivE scrEEning tool for nEwborns in rEgions whErE thE incidEncE of thEsE disordErs is significant, study of thE HEmoglobin and hEmatologic fEaturEs of normal and thalassEmic nEwborns is nEcEssary. ObjEctivE.—To study HEmoglobin and hEmatologic charactEristics of normal and various thalassEmic nEwborns and to assEss thE EffEctivEnEss of simplE scrEEning mEthods for α-thalassEmia 1 and HEmoglobin E. DEsign.—Study was madE of 402 cord blood spEcimEns collEctEd from unrElatEd Thai individuals. HEmatologic paramEtErs and HEmoglobin profilEs wErE dEtErminEd. ThalassEmia mutations wErE idEntifiEd using polymErasE chain rEaction–rElatEd tEchniquEs. REsults.—As many as 178 subjEcts (44.3%) wErE found to carry thalassEmia gEnEs with 18 diffErEnt gEnotypEs. All forms of α-thalassEmia including doublE hEtErozygotE for HEmoglobin E and α-thalassEmia showEd significant rEduction in HEmoglobin, mEan corpuscular volumE, and mEan corpuscular HEmoglobin with incrEasing trEnd of rEd blood cEll as comparEd with a non–α-thalassEmic group. Although hEtErozygous HEmoglobin E and β-thalassEmia showEd no hEmatologic diffErEncE from nonthalassEmic group, hEtErozygous α-thalassEmia 1 including thosE with HEmoglobin E showEd significant incrEasE in HEmoglobin Bart lEvEl. Conclusions.—BasEd on thEsE findings, EffEctivE primary scrEEning with 100% accuracy for α-thalassEmia 1 and HEmoglobin E in nEwborns in thE rEgion could bE carriEd out using mEan corpuscular volumE lEss than 95 fL, mEan corpuscular HEmoglobin lEss than 30 pg, or HEmoglobin Bart grEatEr than 8.0% and HEmoglobin E grEatEr than 0.5%, rEspEctivEly.

  • HEmoglobin ProfilEs and HEmatologic FEaturEs of ThalassEmic NEwborns: Application to ScrEEning of α-ThalassEmia 1 and HEmoglobin E
    Archives of pathology & laboratory medicine, 2008
    Co-Authors: Jaruwan Tritipsombut, Kanokwan Sanchaisuriya, Supan Fucharoen, Goonnapa Fucharoen, Nirut Siriratmanawong, Charnchai Pinmuang-ngam, Pattara Sanchaisuriya
    Abstract:

    Abstract ContExt.—ThalassEmia and HEmoglobinopathiEs arE major public hEalth problEms worldwidE. To Establish a cost-EffEctivE scrEEning tool for nEwborns in rEgions whErE thE incidEncE of thEsE disordErs is significant, study of thE HEmoglobin and hEmatologic fEaturEs of normal and thalassEmic nEwborns is nEcEssary. ObjEctivE.—To study HEmoglobin and hEmatologic charactEristics of normal and various thalassEmic nEwborns and to assEss thE EffEctivEnEss of simplE scrEEning mEthods for α-thalassEmia 1 and HEmoglobin E. DEsign.—Study was madE of 402 cord blood spEcimEns collEctEd from unrElatEd Thai individuals. HEmatologic paramEtErs and HEmoglobin profilEs wErE dEtErminEd. ThalassEmia mutations wErE idEntifiEd using polymErasE chain rEaction–rElatEd tEchniquEs. REsults.—As many as 178 subjEcts (44.3%) wErE found to carry thalassEmia gEnEs with 18 diffErEnt gEnotypEs. All forms of α-thalassEmia including doublE hEtErozygotE for HEmoglobin E and α-thalassEmia showEd significant rEduction in HEmoglobin, mEan ...