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Table 2 Interpretation table of -α3.7 and -αSEA protocols for Hb H disease− SEA/−3.7kb genotyping

From: Development of pre-implantation genetic testing protocol for monogenic disorders (PGT-M) of Hb H disease

Primer Sets

Fragments

Genotypes

αα/αα

3.7/αα

3.7/-α3.7

--SEA/αα

--SEA/--SEA

(Hb Bart’s)

--SEA/-α3.7

(Hb H)

3.7 primers

HBA2/HBA1: P1/P2

303/311 bp

303/311

303/311

- / 311

303/311

-

- /311

Internal HBA: P3/P4

252 bp

+

+

-

+

-

-

SEA primers [29]

5’ Breakpoint: W1/W2

288 bp

+

+

+

+

-

+

Deleted Mutant: W1/W4

217 bp

-

-

-

+

+

+

3’ Breakpoint: W3/W4

130 bp

+

+

+

+

-

+