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Table 2 Molecular and functional characterization of patients with IPDs

From: Functional and molecular characterization of inherited platelet disorders in the Iberian Peninsula: results from a collaborative study

Diagnostic suspicion at referral

n

Confirmed IPDs (n = 47)

Presumably misdiagnosed (n = 23)

  

Phenotype/Functional

Molecular diagnosis

Cases

Presumptive diagnosis

Signaling and/or secretion disorder

25

19 (76%)

0

6 (24%)

No platelet defect

Glanzmann thrombasthenia

20

13 (65%)

12

7 (35%)

Signaling and/or secretion disorders

Bernard-Soulier syndrome

13

8 (61.5%)

8

5 (38.5%)

MUO (n = 4)

MYH9-RD (n = 1)*

Chediak-Higashi syndrome

2

2 (100%)

2

0

-

Hemansky-Pudlak syndrome

2

1 (50%)

1

1 (50%)

No molecular confirmation of disease

MYH9-RD

4

2 (50%)

3*

2 (50%)

MUO

Platelet von Willebrand disease

2

0

-

2 (100%)

No definitive diagnosis

Congenital Amegakaryocytic Thrombocytopenia

1

1

1

0

-

Thrombocytopenia 2

1

1

1

0

-

All IPDs Referred

70

47 (67.1%)

28 (40.0%)

23 (32.9%)

 
  1. Abbreviation: IPDs inherited platelet disorders, MYH9-RD MYH9 related disorder, MUO macrothrombocytopenia of unknown origin.
  2. *One of the patients referred with a clinical suspicion of BSS was diagnosed as having MYH9-related disorder.