|
C = Cellular,Humoral immunity & Bone marrow
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Thalassemia
major showing the typical facies,
note the frontal and malar prominences and hypertelorism.
C1 = Alpha
thalassemia
(alpha1 chain deletion)
(autosomal dominant)
homozygous is lethal=Hb bart's Hydrops fetalis
C2 = Beta thalassemia
(autosomal dominant)
c3 = Congenital afibrinogenemia(autosomal recessive)
c4
=
Congenital(infantile) agamma globulinemia(X-linked recessive)
c5 = Congenital aplastic anemia with multiple
congenital anomalies
(Fanconi's anemia) autosomal recessive
c6
= Congenital hypoplastic anemia without
associated anomalies
(autosomal recessive)
C7
= Deficiency of factor VIII with prolong
bleeding time
(Von Willebrand's disease) autosomal dominant
c8
= Deficiency of Hageman factor(factor XII)
autosomal
recessive
c9 = Deficiency of Labile factor(factor V)
autosomal
recessive
c10
= Deficiency of stable factor(factor VII)
autosomal
recessive
c11
= Deficiency of Stuart-Prower factor(factor X)
autosomal
recessive
C12
= Hemoglobin
Bibba
C13 = Hemoglobin C
C14 = Hemoglobin Cheasapeake
C15 = Hemoglobin C-Harlem
C16 = Hemoglobin Constant Spring
C17 = Hemoglobin D-alpha(cypriot)
C18 = Hemoglobin D-beta(Gujarat)
C19 = Hemoglobin D-gamma(Punjab)
C20 = Hemoglobin Dacie
C21 = Hemoglobin E (autosomal dominant)
C22 = Hemoglobin F
C23 = Hemoglobin Freiburg
C24 = Hemoglobin G(Philadelphia)
C25 = Hemoglobin Galliera
C26 = Hemoglobin Geneva
C27 = Hemoglobin Gun Hill
C28 = Hemoglobin H(alpha2 chain deletion)
autosomal
dominant
homozygous is not lethal more severe in heterozygous
of alpha1 & alpha2(C1/C28) =
Thalassemia Hb H Disease
[(C16/C28) = Also heterozygous type of
Thalassemia Hb H Disease]
C29
= Hemoglobin Hammersmith
C30 = Hemoglobin Hiroshima
C31 = Hemoglobin
Hopkins-I
C32 = Hemoglobin Hopkins-II
C33 = Hemoglobin I
C34 = Hemoglobin J-Capetown
C35 = Hemoglobin K
C36 = Hemoglobin Kansas
C37 = Hemoglobin Kemsey
C38 = Hemoglobin King's County
C39 = Hemoglobin Koln
C40 = Hemoglobin L
C41 = Hemoglobin Le(Lepore)
C42 = Hemoglobin M-Boston
C43 = Hemoglobin M-Hyde park
C44 = Hemoglobin M-Iwate
C45 = Hemoglobin M-Milwaukee-I
C46 = Hemoglobin M-Saskatoon
C47 = Hemoglobin Malmo
C48 = Hemoglobin Memphis
C49 = Hemoglobin N
C50 = Hemoglobin Norfolk
C51 = Hemoglobin O
C52 = Hemoglobin P
C53 = Hemoglobin Q
C54 = Hemoglobin R
C55 = Hemoglobin Rainier
C56 = Hemoglobin S(Sickle cell anemia)
autosomal dominant
C57 = Hemoglobin Sabine
C58 = Hemoglobin Santa Ana
C59 = Hemoglobin Scott
C60 = Hemoglobin Seattle
C61 = Hemoglobin Sinai
C62 = Hemoglobin Stanleyville
C63 = Hemoglobin St.Mary's
C64 = Hemoglobin Summersmith
C65 = Hemoglobin Sydney
C66 = Hemoglobin Ubi-I
C67 = Hemoglobin Yakima
C68 = Hemoglobin Ypsi
C69 = Hemoglobin Zurich
________________
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Dr.Jarind B. Sriraumpuch |
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Update since
10/09/50