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Bernard–Soulier syndrome

Index Bernard–Soulier syndrome

Bernard–Soulier syndrome (BSS), also called hemorrhagiparous thrombocytic dystrophy, is a rare autosomal recessive bleeding disorder that causes a deficiency of glycoprotein Ib (GpIb), the receptor for von Willebrand factor. [1]

27 relations: Antibody, Aspirin, Bleeding diathesis, Bruise, Coagulopathy, Dominance (genetics), FLNA, Giant platelet disorder, Glanzmann's thrombasthenia, Glycoprotein Ib, Glycoprotein IX, GP1BA, GP1BB, Gray platelet syndrome, Jean Bernard (physician), Jean Pierre Soulier, May–Hegglin anomaly, Megakaryocyte, Nosebleed, Orphanet Journal of Rare Diseases, Perioperative, Platelet, Ristocetin, Thrombocytopenia, Tranexamic acid, Von Willebrand disease, Von Willebrand factor.

Antibody

An antibody (Ab), also known as an immunoglobulin (Ig), is a large, Y-shaped protein produced mainly by plasma cells that is used by the immune system to neutralize pathogens such as pathogenic bacteria and viruses.

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Aspirin

Aspirin, also known as acetylsalicylic acid (ASA), is a medication used to treat pain, fever, or inflammation.

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Bleeding diathesis

In medicine (hematology), bleeding diathesis (h(a)emorrhagic diathesis) is an unusual susceptibility to bleed (hemorrhage) mostly due to hypocoagulability, in turn caused by a coagulopathy (a defect in the system of coagulation).

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Bruise

A contusion, commonly known as a bruise, is a type of hematoma of tissue in which capillaries and sometimes venules are damaged by trauma, allowing blood to seep, hemorrhage, or extravasate into the surrounding interstitial tissues.

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Coagulopathy

A bleeding disorder (coagulopathy) is a condition that affects the way the blood clots.

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Dominance (genetics)

Dominance in genetics is a relationship between alleles of one gene, in which the effect on phenotype of one allele masks the contribution of a second allele at the same locus.

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FLNA

Filamin A, alpha (FLNA) is a protein that in humans is encoded by the FLNA gene.

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Giant platelet disorder

Giant platelet disorders are rare disorders featuring abnormally large platelets, thrombocytopenia and a tendency to bleeding.

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Glanzmann's thrombasthenia

Glanzmann's thrombasthenia is an abnormality of the platelets.

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Glycoprotein Ib

Glycoprotein Ib (GPIb), also known as CD42, is a component of the GPIb-V-IX complex on platelets.

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Glycoprotein IX

Glycoprotein IX (platelet) (GP9) also known as CD42a (Cluster of Differentiation 42a), is a human gene.

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GP1BA

Platelet glycoprotein Ib alpha chain also known as glycoprotein Ib (platelet), alpha polypeptide or CD42b (Cluster of Differentiation 42b), is a protein that in humans is encoded by the GP1BA gene.

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GP1BB

Glycoprotein Ib (platelet), beta polypeptide (GP1BB) also known as CD42c (Cluster of Differentiation 42c), is a protein that in humans is encoded by the GP1BB gene.

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Gray platelet syndrome

Gray platelet syndrome (GPS), or platelet alpha-granule deficiency, is a rare congenital autosomal recessive bleeding disorder caused by a reduction or absence of alpha-granules in blood platelets, and the release of proteins normally contained in these granules into the marrow, causing myelofibrosis.

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Jean Bernard (physician)

Jean Bernard (26 May 1907 in Paris – 17 April 2006 in Paris) was a French physician and haematologist.

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Jean Pierre Soulier

Dr.

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May–Hegglin anomaly

May–Hegglin anomaly (MHA), also known as Döhle leukocyte inclusions with giant platelets and macrothrombocytopenia with leukocyte inclusions, is a rare genetic disorder of the blood platelets that causes them to be abnormally large.

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Megakaryocyte

A megakaryocyte (mega- + karyo- + -cyte, "large-nucleus cell") is a large bone marrow cell with a lobated nucleus responsible for the production of blood thrombocytes (platelets), which are necessary for normal blood clotting.

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Nosebleed

A nosebleed, also known as epistaxis, is the common occurrence of bleeding from the nose.

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Orphanet Journal of Rare Diseases

The Orphanet Journal of Rare Diseases is a peer-reviewed open access medical journal covering research on rare diseases.

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Perioperative

The perioperative period, (not to be confused with peroperative period - during the course of the operation), is the time period describing the duration of a patient's surgical procedure; this commonly includes ward admission, anesthesia, surgery, and recovery.

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Platelet

Platelets, also called thrombocytes (from Greek θρόμβος, "clot" and κύτος, "cell"), are a component of blood whose function (along with the coagulation factors) is to react to bleeding from blood vessel injury by clumping, thereby initiating a blood clot.

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Ristocetin

Ristocetin is an antibiotic, obtained from Amycolatopsis lurida, previously used to treat staphylococcal infections.

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Thrombocytopenia

Thrombocytopenia is a condition characterized by abnormally low levels of thrombocytes, also known as platelets, in the blood.

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Tranexamic acid

Tranexamic acid (TXA) is a medication used to treat or prevent excessive blood loss from major trauma, postpartum bleeding, surgery, tooth removal, nosebleeds, and heavy menstruation.

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Von Willebrand disease

Von Willebrand disease (vWD) is the most common hereditary blood-clotting disorder in humans.

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Von Willebrand factor

Von Willebrand factor (vWF) is a blood glycoprotein involved in hemostasis.

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Redirects here:

Bernard-Soulier disease, Bernard-Soulier syndrome, Bernard-soulier syndrome, Gp 1b deficiency, Gp Ib deciciency, Gp1b deficiency, GpIb deficiency, Hemorrhagiparous thrombocytic dystrophy.

References

[1] https://en.wikipedia.org/wiki/Bernard–Soulier_syndrome

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