Case#: 48 yo, Male

DiseaseAssertion: GT

FamilyInfo: 2 siblings diagnosed GT, 5 children diagnosed GT. No pedigree.

CasePresentingHPOs: (HP:0040231) Abnormal onset of bleeding; (HP:0004406) Spontaneous, recurrent epistaxis; (HP:0002248) Hematemesis; (HP:0002249) Melena

PlateletAggregation: Prothrombin time: 12, Partial thromboplastin time: 35, Platelet function analyzer-100: >200

CaseHPOFreeText: duodenal angiodysplasia

ProteinExpression: Flow cytometry: CD41 and 61 absent

CasePreviousTesting: Molecular sequencing, Patients’ information was obtained from the medical record system of the Madinah Hereditary Blood Disorders Center, Maternity and Children Hospital, King Fahd Hospital, Al Madinah, Saudi Arabia.

Gene: ITGA2B

HGVS: NM_000419.5(ITGA2B):c.1210+5G>A

ClinVar: 1210188

CAID: CA915940251

gnomAD: 0 https://gnomad.broadinstitute.org/variant/chr17-44383488-C-T?dataset=gnomad_r4

Case#: 18 yo, Male (deceased)

DiseaseAssertion: GT

FamilyInfo: Uncle diagnosed GT, 2 siblings diagnosed GT. No pedigree. Experienced mild episodes of bleeding (gum bleeding, bruises, ecchymosis).

CasePresentingHPOs: (HP:0002249) Melena; (HP:0002573) Hematochezia

PlateletAggregation: Prothrombin time: 12.2, Partial thromboplastin time: 31.4, Platelet function analyzer-100: 235

CaseHPOFreeText: Hemoglobin (Hb) level was 10.8 upon admission, dropped to 5.3

ProteinExpression: Flow cytometry: CD41 and 61 absent

CasePreviousTesting: Molecular sequencing, Patients’ information was obtained from the medical record system of the Madinah Hereditary Blood Disorders Center, Maternity and Children Hospital, King Fahd Hospital, Al Madinah, Saudi Arabia.

Gene: ITGA2B

HGVS: NM_000419.5(ITGA2B):c.1210+5G>A

ClinVar: 1210188

CAID: CA915940251

gnomAD: 0 https://gnomad.broadinstitute.org/variant/chr17-44383488-C-T?dataset=gnomad_r4