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Condition report · Hematological

Inherited Platelet Function Disorders

Inherited conditions in which platelets, the blood cells that help form clots, do not work properly, causing easy bruising, nosebleeds and heavy or prolonged bleeding. Platelet counts are often normal or only mildly reduced.

A condition report looks for rare variants known to cause the conditions it covers.

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What your report covers

The 6 conditions we analyse

Glanzmann Thrombasthenia

Autosomal recessive

A recessive disorder caused by changes in ITGA2B or ITGB3, in which platelets cannot clump together, causing lifelong bleeding from the skin, nose, gums and, in women, heavy periods.

What a diagnosis changes

Knowing about it helps avoid antiplatelet medicines, guides the choice of platelet transfusion or recombinant factor VIIa, and prompts planning in pregnancy because antibodies against platelets can affect the baby.

Genes analysed

Includes 2 related subtypes ↓
  • Glanzmann thrombasthenia 1
  • Glanzmann thrombasthenia 2
MONDO:0100326Orphanet 849MedGen 52736

Bernard-Soulier Syndrome

Autosomal recessive

A disorder caused by changes in GP1BA, GP1BB or GP9, in which platelets are large, reduced in number and cannot stick to damaged blood vessels; it is usually recessive, though milder dominant forms exist.

What a diagnosis changes

A correct diagnosis avoids it being mistaken for immune thrombocytopenia and treated unnecessarily.

Genes analysed

Also known as

BSS; deficiency of platelet glycoprotein 1b; giant platelet disease; giant platelet disorder, isolated; giant platelet syndrome; Hemorrhagiparous thrombocytic dystrophy; macrothrombocytopenia, familial Bernard-Soulier type; Platelet glycoprotein 1b, deficiency of

Includes 4 related subtypes ↓
  • Bernard-Soulier syndrome, type A2, autosomal dominant
  • GP1BA-related Bernard-Soulier syndrome
  • GP1BB-related Bernard-Soulier syndrome
  • GP9-related Bernard-Soulier syndrome
MONDO:0009276OMIM 231200Orphanet 274MedGen 2212

Gray Platelet Syndrome

Autosomal recessive

A recessive disorder caused by changes in NBEAL2, in which platelets lack their storage granules, leading to large platelets, low platelet counts, bleeding and, over time, scarring of the bone marrow and an enlarged spleen.

What a diagnosis changes

Knowing about it prompts monitoring for bone marrow scarring and avoidance of medicines that affect platelet function.

Genes analysed

Also known as

Alpha storage pool deficiency; BDPLT4; GPS; marked decrease or absence of alpha-granules and of platelet-specific alpha-granule proteins; platelet alpha-granule deficiency

MONDO:0007686OMIM 139090Orphanet 721MedGen 82900

P2RY12-Related Platelet Disorder (Platelet-Type Bleeding Disorder 8)

Autosomal recessive

A recessive disorder of the platelet ADP receptor encoded by P2RY12, causing mild to moderate bleeding.

What a diagnosis changes

Knowing about it helps plan bleeding prevention around surgery, dental work and childbirth, and avoid medicines that affect platelet function.

Genes analysed

Also known as

BDPLT8; bleeding disorder, platelet-type 8; P2RY12-related platelet disorder, autosomal recessive

MONDO:0012354OMIM 609821Orphanet 36355MedGen 344008

RASGRP2-Related Platelet Disorder (Platelet-Type Bleeding Disorder 18)

Autosomal recessive

A recessive disorder caused by changes in RASGRP2 that impairs platelet activation, causing bleeding from the gums and nose and after injury.

What a diagnosis changes

Knowing about it helps plan bleeding prevention around surgery, dental work and childbirth, and avoid medicines that affect platelet function.

Genes analysed

Also known as

BDPLT18; bleeding disorder due to calcium- and DAG-regulated guanine exchange factor-1 deficiency; bleeding disorder due to CalDAG-GEFI deficiency; inherited bleeding disorder, platelet-type caused by mutation in RASGRP2; RASGRP2 inherited bleeding disorder, platelet-type; RASGRP2-related platelet disorder

MONDO:0014386OMIM 615888Orphanet 420566MedGen 863021

GP6-Related Platelet Disorder (Platelet-Type Bleeding Disorder 11)

Autosomal recessive

A recessive disorder of the platelet collagen receptor glycoprotein VI, encoded by GP6, usually causing mild bleeding.

What a diagnosis changes

Knowing about it helps plan bleeding prevention around surgery, dental work and childbirth, and avoid medicines that affect platelet function.

Genes analysed

Also known as

BDPLT11; GP6 inherited bleeding disorder, platelet-type; GP6-related platelet disorder; inherited bleeding disorder, platelet-type caused by mutation in GP6; platelet-type bleeding disorder-11

MONDO:0013623OMIM 614201Orphanet 98885MedGen 481750

Limitations

  • GP1BB, one of the Bernard-Soulier genes, lies in the 22q11.2 region. Some people have a deletion of this region on one copy and a variant on the other; deletions need copy-number analysis and may be missed.

Other hematological conditions

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