Table 2. Table of patient-derived... | American Society of Hematology

Table 2.

Table of patient-derived samples used in the analysis

Patient	Mutation name	Mutation
1	–α^3.7/− −^SEA	3.7kb deletion/Southeast Asian deletion (∼82kb)
3	α^T-Saudiα/α^Agrinioα	HBA2: ∗94A>G/HBA2: 89T>C
4	α^Adanaα/α^T-Saudiα	HBA2: 179G>A/HBA2: ∗94A>G
5	α^Agrinioα/α^Agrinioα	HBA2: 89T>C/ HBA2: 89T>C

Patient	Mutation name	Mutation
1	–α^3.7/− −^SEA	3.7kb deletion/Southeast Asian deletion (∼82kb)
3	α^T-Saudiα/α^Agrinioα	HBA2: ∗94A>G/HBA2: 89T>C
4	α^Adanaα/α^T-Saudiα	HBA2: 179G>A/HBA2: ∗94A>G
5	α^Agrinioα/α^Agrinioα	HBA2: 89T>C/ HBA2: 89T>C

Patients are listed along with common names of mutations and the underlying deletion or mutation leading to the manifestation of the disease. Asterisks indicate the position of the nucleotide that follows the preceding stop codon. The Hb Adana and Hb Agrinio mutations result in severely unstable Hb and a subsequent deficiency of functional α-globin chains. The T-Saudi mutation causes a disruption of the poly-A signal and the production of a nonfunctional α-globin mRNA. The − −^SEA deletion refers to a ∼20 kilobase deletion resulting in both HBA2 and HBA1 loss. Finally, the −α^3.7 deletion is caused by an error in crossing over, resulting in the deletion of 1 of the α-globin genes. The combination of mutations and deletions can result in various phenotypic severities.

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