Figure 1, Flow cium mein the cai detection program atthe Ospetsle Regione per Ie Mirocitenie in Caza Table 1. Normal Ho As level iron deficiency *oinhertance of 8 end 3 thalassemia some mild 8 thalassemia mutations +68 thalassemia ‘Normal red cell indies and + silent thalssemia mutations Hb Ae level (sient) {a gobin gene tipication Severe heterazygous 8 hyperunstable haemoglobin thalassemia *coinhentance of heterozygous thalassemia and tide aTable 4.1 - Classification of carriers for most common haemoglobinopathiesTable 4.3 - atypical B-thalassaemia carriers Normal MCV and MCH ~ co-inheritance of a-thalassaemia Borderline/normal HbA2 - some mild B-thalassaemia alleles - co-inheritance of é-thalassaeriia ~ ey5B-thalassaemia - Corfu 6B-thalassaemia Normal MCV, MCH and HbA Gilent carrier) = very mild/silent alleles - triplicated ar-globin gene Significant clinical phenotype - co-inheritance of a globin gene defects: - triplicated o-genes, HbH disease genotype (~/-c) - hyperunstable globin chains (dominant P-thalassaemia) Table 4.4 - Average haematological findings of some sickling disorders Severity Condition Hb | MCV | HbA2 | HbF | HbS Asymptomatic HbAS 143 | 87 | 36 | 08 | 38 HbS/HPFH 14.0| 86 21 135.9] 62 Mild HbS/5Bthal 11.4] 74 2.2 28.8 | 69 HbS/Bt thal 10.3) 71 48 | 5.0 | 67 Hbss (Arab gs | 70 | 24 | 200] 77 Indian) Severe HbS/B° thal 8.6 | 69 5.0 65 | 89 HbSS (African) | 7.8 | 90 28 | 5.3 | 92Table 4.6 - Summary of the common HbE syndromes Phenotype Genotype Anaemia Asymptomatic HbE heterozygote BNE No. HbsE (25-309)+4. Hbf-a thalassemia 2 heeranygoe ——pNE-aNathl2 No Hist as.a0% 4 Hea taassaemia Theerocygoe —pNE-aNatM! No Hest 19219044 HDE pomazygoie 89 No only HbE HE pomazygorea ‘halasacmi heterazygote 8 pEaNathal No onty HOE HBErHBC FRC No Hot 62%) +HbC156%) Symptoma HE homozygote-HbCS homozygote BEIBE-HD CSHbCS_— Mild Hs (co) +252 HHbE-8” thalassaemia wd Moderate io severe Hat +F HE; thalassaemia pune Mi HixesrsA 1 bar's “HH cisease with HE heterozygote ee Thal Va thal “BY! Moderate Hosk+A-Ban’s - HUH-CS disease with HOE heterozygote a-Thal VHUCS-PYBE Moderate HbscS+E+A+Bar’s ef Bares = HbH disease with HbE homozygote a Thal fa thal 2~fF/BF Moderate to severe HhsE++Bant’s - HOH-CS disease with HBE homozygote a Thal 1/HBCS-Pi/p — Moderateto severe HbsCS+E+F+ Bart's - HOH disease with HbE‘ thal disease or Thal /a thal 2~B°/B* Moderate to severe HbsE+ F+Bart's, - HOHLCS disease with HBF thal disease er Thal /HBCS-B"JB° Moderate to severe HbsCS+E+F+ Ban'sTable 4.7 - Haematologic data in various HbE syndromes Hb Mcy NCH = Osmotic ‘CIP (wa) (ea) rag Hb wing Normal Misg=09Ft25220 723 Stett = ke 5202)+8 eat 128215 Qi25 224 Mord +E PUd=DaHI 4A MoE-otalessaemia 2 131214 axd ND Nord + Epas=t5Hj48 Hbe-otalesemia 1 125214 Tiss Matt D + EeO7=1 PRA Hommygeus BE 11421 8 Tost ms19 + fe (EaT7=598) e-p° taessaemia 78226 G25 10296 + EBBatt SKF FA Bars asense meoTal vom? 91211 Cr) + E(30221%)48 “+Bat's 22=18%) teeta yrbcs 80209 Graf t822 oD + C3it1=04N) +6199=1 8%) Ae Bars @aets%) eFeats esas 8013 e282 + E(G0%)sF+Bats 6%) oF C8 (1 92008) =E (R6428%) +F+ Bats 721.9%) ND, not determined; N, normal; D, desteased Table 4.8 - Screening for B-thalassaemia carriers: recommended methods and cut-off values. Cut-off value for carriers Mcy Flectronic determination < 7a cH Hlectronic determination <27 D8 HbA Elution after electrophoresis Microchro ‘on DES2 > 36% HPLC Hb analysis Electrophoresis on cellulose acetate HPLC Increased HOF (> 5.0 %) TF Presence of abnormal band LHF (quantitative) Alkali denaturation HPLC > SK Immunologic determination ‘8 globin synthesis ratio CMC chromatography 212 HPLC *6B-thalassaemia carriers