Hidaka Kazuo

Iuchi Iwao

Yamasaki Toshiko

Yamasaki, Toshiko

Hidaka, Kazuo

Iuchi, Iwao

Kawasaki Medical School Institutional Repository / 川崎医科大学学術機関リポジトリ

、KawasakilkaishiArts&Sci(20):59-63(1994)DistributionofAbnormalHemoglobinaroundtheCoastoftheSetoInlandSeainComparisonwithThoseofSurroundingCountriesToshikoYAMASAKI,KazuoHIDAKAandlwaoIUCHID"α”"29"ォqfBiOC〃e"ZfSｫ7恥KtzwaSα〃ノ'ん碗azISじんo01K2"rzsh洗j7DZ-OZ,ノZ功α泥(ReceizﾉGao〃Sｾｶ彪刀2627･3QZ994ノ5 9AbstractAbout760sortsofabnormalhemoglobins(abnHbs)havebeenreportedintheworld(1994).WecontinuedtoscreenthebloodspecimensofinhabitantsaroundtheSetolnlandSeaforthepastl5years.ThedetectionrateofabnHbofourlaboratorywasdifferentfromareatoareawithanaverageofoneperl,800whichareslightlyhigherthanoneper3,000to4,000inJapan.Morethan30differentabnHbsasthesummationofthereportsoffivelnstitutehavebeenregisteredintheseareas.However,neitherRacialabnHbslikeHbSnorspecificvariantscommontoalloverJapanweredetected.IntroductionSincethefirstabnHb(HbM-Iwate)wasreported'),2)inl960,thescreeningofabnHbhasbeenconducted3)'!')'5)onaboutamillionpeoplebythelaboratoriesorhospitalslocatedatFukuoka,Ube,Hiroshima,Kurashiki,Matsuyama,Osaka,GifuandTokyo(inorderfromwesttoeast).DetectionofabnHbbyelectrophoreticscreeninghasbeencarriedoutactivelyespeciallyintheareaonthecoastoftheSetolnlandSea.RecentlysomeabnHbshappenedtobedetectedbyHPLCforquantitationofHbA,c,however,theelectrophoreticscreeningprovidedamostefficientmethodofstudyingepidemiologiccharactersofabnHbs.Sincel974,wehavecontinuedtoscreenthebloodspecimensofinhabitantsaroundtheSetoInlandSea.Thepresentpaperaimstodescribeabriefreviewofourresultofthescreeningsurveyonthebasesofthoseoftheaforedescribedinstitutes.MaterialsalldMethodsIcecoldbloodspecimensusedfortheexaminationwereshippedtouseveryonceaweekfromKagawaPrefecturalCentralHospitalinKagawaprefecture,FukuyamaNationalHospitalinHiroshimaprefecture,KobeCentralHospitalinHyogoprefectureandKawasakiHospitalinOkayamaprefectureduringtheperiodfroml974tol989.Allofthemwerelocatedincloseproximityfromourlaboratory.Eachspecimenswereregisteredintocomputerwithitemsoflivingplace,name,ageandsextoavoiddoubletestingofthesameindividuals.VenousbloodwascollectedinHeparinsolution.Theanticoagulatedbloodwasmixedwith0.3%KCNsolutionwhichwaspreviouslyputinQbl6り KawasakilkaishiArts&Sci(20)1994ahollowofal50wellplateandthenthemixturewasplacedtofreezeat-70℃overnight.Whenmeltingthemusingthesocalled"freezeandthawmethod'',150hemolysateswerepreparedatonce.One"lofhemolysatewasappliedonacrylamideIEFplate(5%T,2.6%C,pH5-9,10×17cm)andlEFwerecarriedoutat4℃,500Vfor2-3hr.About80hemolysateonanlEFplatewerepossibleapplication.Thepreparationofglobinandits"andnchain,enzymaticdigestionofthechainandaminoacidsequencingforprimarystructuralanalysiswereperformedbythemostconventionalwayofmethodologyatontime.ResultTheresultofthesurveywhichwascarriedoutinourlaboratoryforthepast20yearsisshownintheTable.InTakamatsuarea,73,536peoplehadbeenscreenedand51TableTheIncidenceofAbnormalHbsFoundaroundtheSetolnlandSea’Takamatsu Fukuyama Kobe1974.1‐1988．1273,53619854-1988.631,41919817‐198347,458151/316410Ube-2NunobikiAlbany-SumaHandaJHabanaUmiN.1.5SyracuseGCoushattaAnkaraRiyadhN.INo.ofExamined*No.ofabn.HbIncidence331/952511/1442"chain 16Ube-2MizushiN.I.17Ube-2St.LukesN.I.１１４１ ９１７３１１１１１２の芦画掴両崖"chain 27TakamatsuYusaJBangkokGSzuhuN.I、1Fukuyama９３１１３１ 1 １１１１１ychain 0 5FFukuyamaF-ForestParkN.I.0113N.I 108 0N.I＊notidentifiedThenumberisrefertocomputerregisteredindividualswithitemsoflivingplace,name,ageandsextoavoidoverlappedexamination.’｜’＝ToshikoYAMASAKIetal:ScreeningofAbnormalHemoglobin 6ZabnHbsweredetected・Detectionratewasthereforelover1,442whichissomewhathigherthananaverageinJapan(1/3,000-1/4,000)．ItisnoteworthythatHbUbe-2("68Asn→Asp)andHbTakamatsu(Pl20Lys→GIn)wassporadicallydistributedinslightlyhighfrequency,whichare"andPchainvariant,respectively.InFukuyamadistrict,31,419peoplehadbeenscreenedand33abnHbsweredetected.Detectionratewasl/952whichissignificantlyhigherthantheaverageinJapan.HbUbe-2wasarelativelyhighfrequencyindicatingthereforethatismorewidelydistributivethanHbTakamat-su.InKobearea,47,458peoplehadbeenscreenedandtherewerel5abnHbs.Detectionratewasl/3,164.TherewasnotanycommonlyabundantabnHbsinviewoffrequency,butmanykindsofvariantsweredetected.InOkayamaarea,12,678peoplehadbeenscreenedand4abnHbsweredetected(dataisnotshown).Detectionratewasl/3,170.ThethreeabnHbswereHbUbe-2,HbHoshida(P43Glu→Gln)andHbFukutomi(Q,126Asp→Val)OneremaimngabnHbwasnotidentifiedyetforthesakeofaverylimitedamountofsample.DiscussionAccordingtothelistofthelnternationalHemoglobinl㎡ormationCenter(IHIC)in1994'),about760kindsofabnHbshavebeenregistered.Sincel948,thenumberofpapersforthenewabnHbsandthescreeningsurveyhavebeenincreasedyeartoyearintheworldreachingaplateau.InChina,afairlylargenumberofpeople(About800,000peopleintotal)intheprovinceswerereportedtobescreened7)'8)'9)'lately.DetectionrateofabnHbineachprovincerangedfromO.05tol.09%,whichwerehigherthanthatofJapan(0.03%).ThekindsofabnHbwerereportedtoberatherfew,24intotal,inspiteofsuchhighfrequencyandlargescalescreenedpeople・HbEandHbNewYorkweredistributedinprettyhighfrequency(HbEwas66%andHbNewYorkwaslO%oftotalabnHb)71HbEisthemajorabnHbespeciallyinthesouthpartofChina.Korea,thenearestneighboringcountrytoJapan,hasrarescreemngreportsofabnHb.InSoutheastAsiancountries,thefreguencywasexpressedonlyintermofHbE,andineachcountry,exceptforSingapore,thescreemngwasconductedonasmallnumberofpeople'0),thereforeitisnotpropertocomparewiththedataofJapan.ButitissurethatHbEexistsinveryhighfrequencyinthesecountries(0.2-34.9%).ThisracialabnHbisnotdistributeduniformlyineachcountry,thatis,thehighestoccurrenceareseeninLaosandCambodia(34.9%inbothcountries).InJapan,aboutl60kindsofabnHbswerefound.SeventeenofthemwereseriouslyunstableHbvariantswhichcausehemolyticorcyanoticdisordereveninheterozygouscondition.About50ofthemdemonstratedabnormaloxygenaffinity.Morethan60%ofthemweredetectedinpeoplearoundtheSetolnlandSea.Aboutl4millionpeoplehavebeenestimatedtolivearoundtheSetolnlandSeaand460thousandpeopleintotalhadbeenscreenedbysixlaboratorieslocatedthisarea.Theyperformedquitealargescaleandexactsurveywhichwasneverreported,sinceabout3%ofthetotalpopulationwassUbjectedtothescreemngandprovidedamoreefficientandー"髭 KawasakilkaishiArts&Sci(20)1994reliableepidemiologicalstudy.Twentyyearsago,westartedthescreeningtestwithuseofthebloodspecimenofmhabitantsaroundtheSetolnlandSea(Table).DetectionratesofHbvariantsintheTakamatusandtheFukuyamaarea(1/1,442andl/952,respectively)werehigherthantheaverageofJapan(1/3,000-4,000).TherewerelocallyspecificandcommonabnHbsintheseareas,thatwasHbUbe-2andHbTakamatsu.Ontheotherhand,therewasnotsporadicabnHbintheKobeareainviewoffrequencybutvarietiesofabnHbwereabundant.ThesethreeareasarelocatedonthecoastofthelnlandSea,thereforethepresenceofcommonvariantsinonelocationmaydenotethattherehasbeenaveryminutegeneflowuptothelateerainTakamatsuandFukuyama,therefore,assumptionofthelocationoriginofabnHbmaypermitustospeculatethatitisthesamelocationaswhenweverifieditsendemicityeveniftheyareportto,〃ns.InthecaseofHbTakamatsu,wedidfamilystudybycarefulinquiry.Theyhadnobloodrelationshipinatleast4to5generations.Thepresumptionthatallcarriershavedescendedfromasinglecommonancestryseemsaprobablespeculation.ItwasalsonoteworthythatthisrarelyoccurringHbvariantspossessonehomozygouscarrierwithoutclinicalmanifestations.Inconclusion,manykindsofrareabnHbswerereportedbut#(RacialabnHbs"likeHbSinNegroesandHbEinSoutheastAsianshavenotbeendetectedinJapan.However,somevariants,forexampleHbK61n''),HbM-lwate,HbUbe,HbM-Saskatoon,wereoriginatedindePendentlyinJapanbynaturalmutation.ItisgermanetothinksomeothersareimmigratedanddwelledfromthemainlandofAsia.Forinstance,inthecaseofHbHofu,itisarareHbvariantinJapan,butitisnotrareinIndia,thatis,theabnHbmighthavecometoJapanbywayofbothseaandroadfromtheSouthAsiancountryinoldtimes.Ifthisassumptionistrue,suchavariantmayexistinanothercountryinAsia,too.Infact,HbEisthemainHbvariantinSoutheastAsia'0)anditisoftenseenwithadeclivityinthesouthpartofChina,thenminimumtoJapan.ItmightbesuggestionthatabnHbcanbetransportedbyroadthroughthepoliticalboundary.Infuture,itwillbeinterestingtoreinvestigatethedistributionofabnHbaroundthecoastoftheSetolnlandSeaafterdeterminationofthehaplotypeofcommonabnHbgene'2),'3)orothergeneticmarkerssuchasHLAandbloodgrouptoknowtheexactoriginofourrace.ThisstudywassupportedinPartbyaResearchProjectGranttol.I.(No.5-102and6-103)fromKawasakiMedicalSchool.Reference1)CarverMFHandKutlarA:InternationalHemoglobinlnformationCenterVariantList.Hemoglobinl8(2),19942)MiyajiT,Iuchil,ShibataS,TakedalandTamuraA:PossibleAminoAcidSubstitutionintheafChain(a,87.ryr)ofHbMIwate.ActaHaematolJap26:538-543,196353ToshikoYAMASAKIetal:ScreeningofAbnonnalHemoglobinSaitoS:StudyofAbnormalHemoglobininEhime,Japan5TwoStructuralVariantsofHemoglobinA(HblandHbJlran)andStructuralandSyntheticVariantsofDeltaChain.JpnJHumanGenet29:335-351,1984Sumidal:StudiesofAbnormalHemoglobinsinWesternJapan.FrequencyofVisibleHemoglobinVariants,andChemicalCharacterizationofHemoglobinSawara(Q#"26A'aA)andHemoglobinMugino(HbLFerrara;"47G'yA).JapJHumanGenetl9(4):343-363,1975OhbaYandMiyajiT:AbnormalHemoglobinsandThalassemiaS]mldromeinJapan.Byohtaiseiril(4):382-388,1982HidakaK,IuchilandShimasakiS:StudiesontheabnormalHemoglobinⅨ二AnImprovedMethodofHighPerformanceLiquidChromatographyforSeparationandIdentificationofTrypticPeptidesofAbnormalHemoglobin.KawasakilkaishiArts&ScilO：49-54,1984TaoZY:HemoglobinopathiesinChinaMainland.Hemoglobin5(5):517-524,1981JenPC:AbnormalHemoglobinsFoundinGuangdong,P.R.China.Hemoglobinll(6):573-579,1987LiHJ,LiuDXetal:HemoglobinopathiesinXinjiang.HemoglobinlO(4):435-449,1986FucharoenSandWinichagoonP:HemoglobinopathiesinSoutheastAsia.Hemoglobinll(1):65-88,19871uchil,HidakaK,etal;IdentificationofabnormalHemoglobinK61n("98(FG-5)Val->Met):TheFourthHbK61nVariantFoundinJapan.KawasakiMedJ5(1):61-69,1979ShimizuK:DNAPolymorphismPatternsinthePGlobinGeneClusterintheJapanesePopulation・Hemoglobinll(5):487-496,1987ShimizuK,ParkKSandOmotoK:TheDNAPolymorphismsoftheB-GlobinGeneClusterandtheArrangementsoftheQf-andthey-GlobinGenesinKoreans.Hemoglobinl3(2):3）4）5）6）１１７８9）10)1）12）13）137-146,1989』の』

Distribution of Abnormal Hemoglobin around the Coast of the Seto Inland Sea in Comparison with Those of Surrounding Countries

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Distribution of Abnormal Hemoglobin around the Coast of the Seto Inland Sea in Comparison with Those of Surrounding Countries

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