Talasemia:

Pacienta B.R.Din punct de vedere clinic nu am avut pacienta, dar chiar si daca era nu prezinta simptome

TS:
Sg: 63%
Ba:1%
Ly: 32%
Mo:4%
Se remarca o anemie microcitara hipocroma cu codocite, hematii cu punctatii bazofile, eliptocite, rare
schizocite.

Hemograma:
RBC:5.87/#l H
Hgb: 12,1 g/dl
Hct: 37,8%
Tc: 227.000/#l
MCV: 64,4fl L
MCH: 20,6pg L
MCHC: 32,0g/dl
RDW-CV: 16,6% H
RDW-SD: 29,9fl L
PDW: 9,1fl
MPV: 8,1fl L
P-LCR: 14,6% L

Alte analize nu am avut la dispozitie. Ar fi fost utile urmatoarele:
Pt. confirmarea diagnosticului:
Originea etnica a pacientului
Electroforeza in mediu
Masurarea cantitativa a Hb A2 >>>>
Pt. diagnosticul diferential:
Alte anemii microcitare:
-an feripriva:
-an cronica simpla
-alte talasemii, hemoglobinopatii

Este cea mai frecventa boala genetica din lume. Aproximativ 3% din populatia lumii(145 de milioane de oameni)
au tara de talasemie, iar 269 de milioane sunt purtatori ai unei hemoglobinopatii.
Definitie:Hemoglobina este alcatuita din 4 lanturi polipeptidice: 2 si 2. Defect cantitativ al unuia dintre cele 2
tipuri de lanturi globinice cu exces relativ al celeilalte.
Formare de cristale(punctatii bazofile)
Membrana eritrocitelor este mai rigida, apar forme anormale(codocite)-scade durata de viata
a hematiei, exista o tendinta la hemoliza.
Eritrocitele nu pot lega fierul - celulele devin feriprive devin hipocrome si microcitare
(fierul fiind crescut in depozite. )

talasemiile: lipsa uneia dintre cele 4 gene care codifica Hb
talasemiile: ex. 2 gene care codifica Hb ambele pe cr.11. Mutatiile la nivelul acestor gene sunt cel mai
frecvent punctiforme cu o scadere usoara in productia de globina, tara de talasemie, inaparenta clinic. Este
considerata





Suspiciune de obicei o ridica o hemograma care arata:
Tabloul Sangvin: In fazele incipiente TS arata doar microcite in aceasta faza diagnosticul nu poate fi pus pe
baza lui.
Confirmarea diagnosticului se face prin evidentierea unei valori crescute al HbA2.
Reti
Hemoliza
MO: Epoi inefic


Origine etnica:



Pacienta B.R. TS:

Sg: 63%
Ba:15
Ly: 32%
Mo:4%
Se remarca o anemie microcitara hipocroma cu codocite, hematii cu punctatii bazofile, eliptocite, rare
schizocite.

Hemograma:
RBC:5.87/#l H
Hgb: 12,1 g/dl
Hct: 37,8%
Tc: 227.000/#l
MCV: 64,4fl L
MCH: 20,6pg L
MCHC: 32,0g/dl
RDW-CV: 16,6% H
RDW-SD: 29,9fl L
PDW: 9,1fl
MPV: 8,1fl L
P-LCR: 14,6% L

Dg. Diferential


a) IRON STUDIES:
_ Serum iron: normal to INCREASED, since iron
absorption is INCREASED.
_ Transferrin: levels are variable and complex in
thalassemia:
Thalassemia minor and some cases of thalassemia
intermedia: transferrin levels are
normal.
Thalassemia major and many cases of thalassemia
intermedia: transferrin levels drop.
_ % Saturation: often increased.
_ Ferritin: classically increased.
b) HEMOGLOBIN ANALYSIS:
_ _-thalassemia: Hb electrophoresis abnormal,
with HbA variably decreased, HbF variably
increased, HbA2 (by column chromatography)
increased.
_ _-thalassemia: Hb electrophoresis and HbA2 are
normal. Proof of _-thalassemia requires advanced
PCR methodology.
c) UNCONJUGATED BILIRUBIN (indirect) variably
increased. This is because there is a hemolytic
component in thalassemias. Conjugated (direct)
bilirubin may also be increased. Liver enzymes are
usually normal.

In all cases iron studies are mandatory, about which
there are a few words of warning. Iron studies comprise
serum iron and transferrin levels, with a percentage
saturation, as well as ferritin levels. There can be no
dispute about the diagnosis of iron deficiency if (see
Table 8.1)
1. The serum iron is LOW.
2. The transferrin levels are RAISED
3. The percentage saturation is BELOW 15.
4. Ferritin levels are LOW.