ne deletionР1Р0.02РUndeterminedР2Р0.04Р广东省人群中地贫的携带者频率Р遗传变异РAllele 数Р%Рβ地贫染色体Р198Р2.54РDeletion of CTTT at codons 41-42Р72Р0.92РC→T at position 654 in IVS2Р48Р0.62РA→G at nucleotide -28Р33Р0.42РG→A at codon 26Р10Р0.13РA→T at codon 17Р8Р0.09РInsertion of A at codons 71-72Р7Р0.09РG→T at codon 43Р7Р0.09РA→G at nucleotide -29Р4Р0.05РInsertion of A at codons 27-28Р4Р0.05Р-gene deletionР1Р0.01РUndeterminedР3Р0.06Р广东省人群中β地贫的携带者频率Р广东省年高风险妊娠预测数据(95%CI) ? 重型或中间型β地贫: 645 (480,835)? Bart’s胎儿水肿综合征:1714 (1498,1945) ? 血红蛋白(Hb)H 病: 1677 (1467,1901)Р排序Р出生缺陷分析Р例数Р发生频率?(/10,0 00)Р1Р先天性心脏病Р260Р19.66Р2Р重型地贫Р208Р15.73Р3Р多指Р200Р15.12Р4Р肢体短缩Р111Р8.39Р5Р唇裂/ 腭裂Р109Р8.24Р广州市主要出生缺陷的发生率(1998-2001)Р地贫纯合子:致死性出生缺陷Р重型地贫:胎儿水肿综合征? 早产死胎或出生前后死亡? 可导致严重产科并发症? 无理想治疗方法Р重型地贫? 出生后1年内发病? 多于未成年前因严重贫血而夭折? 输血和去铁治疗可维持,代价昂贵
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