Internado de Hematología Clínica

CÉLULAS FALCIFORMES
Rodrigo Gacitúa Opazo
Introducción
11 11 11 11
 2 Ca+ 2
Etiopatogenia C a +

K+
K+
Epidemiología

Frecuencia de los
alelos de HbS
Clínica

• Anemia Hemolítica con HTC 15-30%

• Reticulositocis significativa
• HTA pulmonar y COR
• Daño en funciones cognitivas
y en comportamiento
Diagnóstico
 CONDICIÓN ANOMALÍA CLÍNICA NIVELES DE VCM ELECTROFORESIS
HEMOGLOBINA fL HEMOGLOBINA
g/dL

RASGO RARO DOLOR Y HEMATURIA NORMAL NORM HbS/A 40/60

DREPANOCÍTICO AL

ANÉMIA CRISIS VASOOCLISIVAS CON 7-10 80-100 HbS/A 100/60

DREPANOCÍTICA INFARTO DE BAZO, CEREBRO, HbF 2-25%
MÉDULA,RIÑON, PULMONES,
OSTEONECRÓSIS ASEPTICA,
CALCULOS BILIARES, PRIAPISMO,
ULCERAS DE TOBILLOS

S/β◦ TALASEMIA CRISIS VASOOCLISIVAS, 7-10 60-80 HbS/A 100/0

OSTEONECRÓSIS ASEPTICA HbF 1-10%

S/β+ TALASEMIA RARA OSTEONECRÓSIS ASEPTICA 10-14 70-80 HbS/A 60/40

HEMOGLOBINA SC RARA CRISIS Y OSTEONECRÓSIS 14-14 80-100 HbS/A 50/0

ASEPTICA, HEMATURIA CON HbC 50%
DOLOR
Tratamiento
Tratamiento
Caso Clínico
Caso Clínico
Leu 13.000/mm3
GR 3.150.000/ mm3
Hb 9.5 g/dL
HTC 27.8 %
VCM 88.3 fL
HCM 30 pg
CHCM 33.9 pg
CHCC 34.6 pg
ADE 21.8 %
PLQ 395.000/ mm3
Reti 13.5%
Actualizaciones
Bibliografía
Principios de medicina interna, Harrison 2015 pág. 910-915
Gracias por su atención
Internado de Hematología Clínica
CÉLULAS FALCIFORMES
Rodrigo Gacitúa Opazo
pH 8.6 on cellulose acetate membranes is especially simple ， inexpensive ， and reliable for initial screening. Agar gel
electrophoresis at pH 6.1 in citrate buffer is often used as a comple mentary method because eaιh method detects different
variants. Some important variants are electrophoretically silent. These mutant hemoglobins can usually be characterized by more
specialized techniques such as mass spectroscopy ， which is rapidly replacing electrophoresis for initial analysis. Quantitation
of the hemoglobin profile is often desirable. HbA2 is frequently elevated in ß thalassemia trait and depressed in iron deficiency.
HbF is elevated in HPFH ， some ß thalassemia syndromes ， and occasional periods of erythroid stress or marrow dysplasia.
For characterization of sickle cell trait ， sickle thalassemia syndromes ， or HbSC disease ， and for monitoring the progress
of exchange transfu sion therapy to lower the percentage of circulating HbS ， quantitation of individual hemoglobins is also
required. In most laboratories ， quantitation is performed only if the test is specifically ordered. Complete charaιterization ，
including amino aαd sequencing or gene cloning and sequencing ， is readily available from several reference laboratories B 巳
cause some variants can comigrate with HbA or HbS (sickle hemoglobin) ， electrophoretic assessment should always be
regarded as incomplete unless functional assays for hemoglobin sickling ， solubil ity ， or oxygen affinity are also
performed ， as dictated by the clinical presentation. The best sickling assays involve measurement of the degree to which the
hemoglobin sample becomes insoluble ， or gelated ， as it is deoxygenated (i.e. ， sickle solubility test). Unstable
hemoglobins are deteιted by their precipitation in isopropanol or after heating to 50oC. High-02 affinity and low-O ， affinity
variants are detected