Table 2.

Included studies conducted in haematologic conditions.

Author [ref.]	Study location	Disease state	Focus of study	Proband population	Included relatives	Main findings/conclusions
Tairaku et al. [29]	Japan	• Severe congenital protein C deficiency	• Outcome of prenatal diagnosis in sibling of affected child	• 1 child, aged 3 years	1 foetus in utero	Foetus: • Heterozygous carrier; would not experience symptoms
Gorakshakar and Colah [13]	India	• β-thalassaemia	• Uptake and results of cascade screening	• Paediatric, number of affected children not specified 490 children from “high risk” communities, ages not reported	• 691 relatives from 44 families, including 25 siblings of index cases	Children from “high risk” communities: • 96/490 (20%) heterozygotes Relatives: • Among siblings of index cases, 10/25 (40%) heterozygotes
Baig et al. [30]	Pakistan	• β-thalassaemia	• Cascade genetic testing results	• 1 child, age not reported	• 27 relatives	Relatives: • 44.4% carriers
Cadet et al. [28]	France	• HH	• Yield of cascade testing and screening of at-risk adults identified through neonatal screening of infants	• Neonatal (number not specified)	• 11 families of C282Ya homozygous infants • 10 families of heterozygous infants • Number/type of relatives not described	Families of homozygous infants: • 5 relatives from 4 families homozygous Families of heterozygous infants: • 5 relatives from 2 families homozygous • 6/10 homozygous relatives began treatment; 4/10 homozygous relatives under surveillance

HH hereditary hemochromatosis.

^aHH-conferring variant.