HEMATOLOGY 2 REVIEWER- REPORTS

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DISORDER MUTATION TESTS/FEATURES TREATMENT/ Other name

MGT
FECHTNER SYNDROME Chromosome PBS: decrease platelet -Cataract surgery: -Alport Syndrome with Rare genetic
22q12.3 BT: prolonged 15minutes leukocyte inclusion disorder
MYH9 gene U/A: rbc present -macrothrombocytopenia causing
Autosomal PLT SURVIVAL -Romiplostism aggregation
dominant IN VITRO PLT: bone marrow injection
examination showing no. of Platelet transfusion
megakaryocytes -Cochlear Implant/
CT: prolonged Hearing aid
DOHLE-LIKE BODIES
GLANZMANN Autosomal -Bleeding disorder -Transfusion of Thrombastenia: weak
THROMBASTHENIA Recessive -Stimulation with stronger thrombin normal platelets: platelets
-Ristocetin infuse more donor Rare disorder manifesting
-Platelet factor III test platelets than NEONATAL PERIOD or
-Bleeding time: prolonged expected to control INFANCY
bleeding
- Site of hemorrhage:
Hormonal therapy
Antifibrinolytic
therapy
Recombinant factor
VIIa: surgical and
non surgical bleeding
: activates factor X

GRAY PLATELETS NBEAL2 Inherited bleeding disorder -risks and preventing

SYNDROME gene bleeding: impair
Autosomal Low plt. Count platelet function
Recessive Normal full blood count Dental care
BT: prolonged Iral contraceptives
Blood smear:large gray rduce menorhhagia
HYPOGRANULAR platelets epistaxis
TEST: Molecular genetic testing/
platelet aggregation studies
 Surgery
Plt. Transfusions
Desmopressin
Splenectomy
Recombinat activated factor VIIa

BERNARD- SOULIER Autosomal Rare inherited disorder of BLOOD Medications should

SYNDROME recessive CLOTTING: infancy/childhood be AVOIDED
GP Ib/IX/V Adenosine DP/ Bleeding episodes:
epinephrine/collagen/arachidonic desmopressin acetate
: jean Bernard
and Jean acid NO SPECIFIC
Pierre-Soulier TREATMENT
Plt. Count, BT, PBS, Plt.
Aggregation, Bone marrow biopsy,
Flow cytometry,

MONTREAL PLATELET MPS For episodes of hemorrhage and NO GENERAL

SYNDROME By: Lacombe bruising RECOMMENDATI
and d’ Angelo ON
1963
Autosomal Experiment:
Dominant DDAVP or 1-
deamino-8-arginine
vasopressin
MAY-HEGGLIN ANOMALY MHA For purpura and bleeding Asymptomatic
Autosomal NO signs and
Dominant DOHLE Bodies symptoms
Mutated in CBC,PBS,BT,CLOT NO specific
MHY9 gene RETRACTION, treatment: no
Chromosome PLT.AGGREGATION TETS, bleeding disorders
region 22q12- tourniquet test, bone marrow Bleeding tendencies
13 examination, molecular studies in: px with very rare
‘’ adda and severe bleedings
pagpadaan ni Hearing test: 5-7
fechtner ken years
may hegglin’’ Renal function test
Dental care

SEBASTIAN SYNDROME Autosomal Impaired blood clotting, abnormal Desmopressin

Dominant platelet function acetate/ DDAVP:
HEMATOLOGY 2 REVIEWER- REPORTS Page 2
 Mutated in Thrombocytopenia: mild to moderate shortened patients
MYH9 gene MEDIAN MPV: 18 fL bleeding time:12- 15
Cjromosome BT: Prolonged minutes more than
22q11.2 PLT. AGGRE TO ADP, collagen, tested for 1 hour
IGPDs by AA and Ristocetin: normal AFTER infusion
GREINACHE PBS: large plt. BLUE cytoplasmic Antifibrinolytic
R 1990 inclusions agents: reduce
Ultrastructural level: enlarged bleeding and
Neutrophils: 1-3 um DISPERSED allogenic blood
ribosome clusters administration
Plt. Surface glycoproteins IIb, IIa, Ib,
IX, IIIa: Normal
EPSTEIN SYNDROME Autosomal AFFECTS: renal sytem and kidney Regarded as a
dominant failure refractory disease
BT: prolonged Renal transplantation
PLT size: 4 to 12 um Immunosuppression
PLT.span: normal medication
 Microscopically, the
kidney shows
glomerular mesangial
expansion and cellular
proliferation.
 Complete blood count
and coagulation
studies,
 including bleeding
time, platelet count,
 a blood smear
(thrombocytopenia and
ultrastructural and
functional studies
showing
macrothrombocytopath
HEMATOLOGY 2 REVIEWER- REPORTS Page 3
 y)

MEDITERANNEAN Heterozygous Plt. Count: 889-290x 10*9L or NO general Population : greeks,

MACROTHROMBOCYTOPE mutations in 290x103/ul recommendation Italians, balkans
NIA GP1BA or Plt. Biomass: normal BUT in bleeding:
GP1BB PBS: stomatocytes, large plt. Platelet transfusion,
Electron microsocpic examination: DDAVP ,
large plt. With no other abnormalities Splenectomy,
Antifibrinolytic
Therapy
HERMANSKY-PUDLAK Hermansky Decreased dense granule NO CURE BUT Describes patients with Rare
SYNDROME and Pudlak at Platelet aggregation: impaired there is STANDARD oculacutaneous albinism hereditary
1959 secondary aggregation response therapy: Vitamin E (bleeding diathesis)
Autosomal Prothrombin time, Partial and Anti diuretic Third prevalent form of
Recessive Thromboplastin time, Plt.count: DDAVP albinism
NORMAL Transfusions of
BT: Prolonged platelets
Platelet delta granules: absent thru Oral contraceptives
electron microscope Avoid blood
anticoagulants:
ASPIRIN

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