A 10-year-old girl was referred to our institution due to loss of consciousness.
appetite, abdominal pain, fever, vomiting
severe anaemia.
Second daughter of a marriage
with a mother of Spanish descent,
born in Paraguay, and father of ancestry
polaca.
The patient had no past medical history
significant perinatal outcomes; but she reported a history of
haemolytic anaemia from childhood, of aetiology
unknown, folic acid supplementation and no
transfusion requirements.
The family history revealed in the
mother a history of moderate haemolytic anaemia
from childhood, with pathology studies
Blood and lymphatic system disorders
5'-nucleotidase deficiency;
Never required transfusions.
17's sister
with a similar history of haemolytic anaemia associated with cancer.
etiology unknown since childhood, required hospitalization in another institution, almost simultaneously
with the proof, for presenting a picture
received transfusion support.
Both
received folic acid supplementation.
Father doesn't
had a relevant history.
1.
The girl reported asthenia and adynamia.
The test
Elevated mental status
tachycardia (no haemodynamic disturbance),
Gastrointestinal disorders
mobile and painless cervical and submaxillary
stricture.
The laboratory at admission showed a concentration of
haemoglobin 5.4 g/dl, hematocrit
16.6%, mean corpuscular volume 91.4
Total bilirubin 1.7 mg/dl, direct bilirubin
Erythrocyte morphology revealed erythematosis, schistocytes, spherocytes, polychromatophilia
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prominent basophil.
Target values
aminotransferase, alanine aminotransferase and amino acidase
serum alkaline phosphatase was within the limits of
normal.
Direct Coombs Tests
and serology for hepatitis A, B and C and
Results were negative for HIV.
Ultrasound
abdominal demonstrated the presence of mud
bile duct length was 11.2 cm.
With the diagnosis of exacerbated hemolytic crisis
for pharyngitis antibiotic therapy was initiated and
transfusion support.
Erythrocyte pathology study
parents.
Haemoglobin electrophoresis a
alkaline pH showed no anomalous bands in any;
If you forget to take Viraferon
mother's hemoglobin A.
Supravital staining for detecting bodies
Heinz was negative.
The thermostability test
was positive in the mother.
The globin gene sequencing was performed.
mother.
The b-globin gene was normal,
while the a2-globin gene showed a mutation in the gene a2-globin gene, the
GTG → ATG in the codon 62, causing a
Methionine (Met)
corresponding to haemoglobin
Evans [to 62 (E11) Val → Met].
The study of erythrocyte disease and the sequencing of globin genes in both daughters,
6 months after transfusion
red blood cells had the same changes
found in the mother.
