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11-03-11

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: 1/5.000-1/10.0002% malaria regions (west Africa) de novo ()

(asymptomatic to hydrops fetalis)10% patients: moderate to severe anemia Heterozygous: asymptomatic HEHomozygous or compound heterozygous: mild to severe HE (HPP hereditary pyropoikilocytosis) ()

RBCs % .(n & Mohandas, Br.J.Haematol., 141(3):367, 2008)Poikilocytes, fragmented RBCselliptocytesSevere anemia ()

SpT The severity of the disease is directly related to the extent of the decrease in membrane mechanical stability (S) ()

(n & Mohandas, Br.J.Haematol., 141(3):367, 2008) ()

Sp (95% of all H cases) ( ) ( )SpT SpD, - (Pro, Gly) Sp (HS), ()

O (1-8, 15-17) ( )20 aHE , - ()

Sp ()

SPTA1-65% of HE casesSDS-PAGE: (-)Sp , , 2 -Sp, SPT, COOH -Sp, LELY -30% of HE cases: (.hydrops fetalis)SDS-PAGE: (-)Sp , truncated variants - ()

4.1RE, / ( ) (100%) 10 ( , (-)) Sp/Actin (-)Sp/actinM COOH-: 70Kb 5% of HE cases 4.1R ()

4.1R 4.1R, GpC p55 (70%) ()

GpC(-)HE ( Leach)A 4.1R p55 ( 4.1/GpC/p55 ) (GpC/GpD) - : Gerbich, Yus, Webb ( ). cyt ()

- (moderately severe severe) , , Stomatocytes: major feature ofRBC morphology on blood smears( ) ( ), ( MCV) MCHC ( HS)

1/100.000, dominant inheritance (

M ??????????Spleen sequestration of stomatocytesMechanistic basis of OHS: Stomatocytes: +, (

(7.2b, LR), 72 ( 24 ) OHS: : , , (

Red cell membrane transport defect, cation homeostasis, cell water content : Hereditary xerocytosis cell water content cell volume net cation content cell water content cell volume : 1/50.000 (10-20x HS) ()

16q23-qter ( ) (- K+ RT) Well-compensated anemia, borderline macrocytosis, mild to moderate enlarged spleenBlood smears: usually less than 10% stomatocytosisRBC dehydration, increase in MCHC, decreased osmotic resistance ()

(L. Bruce, BCMD 2006, 36:331)T 3 ereditary Stomatocytosis and Band 3 HSt

Ko (5-25%) (, ., )Protection against all forms of malariaNo (Southeast Asian Ovalocytosis, SAO) (O)

Infected RBCs (O)

- RBCs ( .)elliptocytes ovalocytes (O)

- ( , )(Homozygosity may lead to embryonic or fetal lethality) (O)

27nt SLC4A1, 9 (400-408) cyt TM1 , , 3, Tyr SAO : , / (O)

-3 ??? 3 Sp (O)

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