Trent R J, Wilkinson T, Yakas J, Carter J, Lammi A, Kronenberg H
Scand J Haematol. 1986 Mar;36(3):272-9. doi: 10.1111/j.1600-0609.1986.tb01734.x.
Severe Hb H disease presented in unexpected ways in 2 families of Greek origin. In 1, Hb H disease led to neonatal death. The underlying molecular defect was double-heterozygosity for the --Med/ alpha thalassaemia haplotype and a nondeletional alpha thalassaemia defect (alpha alpha T'Karditsa'/). The 2nd family requested antenatal diagnosis. The husband had mild nondeletional alpha thalassaemia. Initial investigations in the wife demonstrated unexpected gene mapping patterns. These have recently been shown to result from the (-alpha)Med 20.5/ haplotype.
重度血红蛋白H病在两个希腊裔家庭中呈现出意想不到的情况。在一个家庭中，血红蛋白H病导致新生儿死亡。潜在的分子缺陷是 --Med/α地中海贫血单倍型和非缺失型α地中海贫血缺陷（ααT'Karditsa'/）的双重杂合性。第二个家庭要求进行产前诊断。丈夫患有轻度非缺失型α地中海贫血。对妻子的初步检查显示出意想不到的基因图谱模式。最近发现这些是由（-α）Med 20.5/单倍型导致的。
