[source]
pmid = PMID:7803799
title = A deletional frameshift mutation in protein 4.2 gene (allele 4.2 Lisboa) associated with hereditary hemolytic anemia
[diagnosis]
disease_id = OMIM:612690
disease_label = Spherocytosis, type 5
[text]
The proband was born in 1967, 80 km north of Lisboa (Portugal). She had no major medical history until the age of 20.
Several tests in 1986 failed to show any conspicuous anemia [hemoglobin (Hb) level: 124, 128, and 135 g/L],
suggesting retrospectively that hemolysis was compensated. In 1987, however, the patient was admitted to the hospital
with anemia (RBC count: 3.19 T/L; Hb: 102 g/L; hematocrit (Ht) level: 30%; reticulocyte count: 7.5%),
mild icterus (bilirubin level: 2.6 mg/dL), and splenomegaly. There was no obvious reason for these acute symptoms.
The leukocyte and platelet counts were normal. In 1989, she was readmitted with more severe symptoms: fever (39°C),
abdominal pain, pallor, and icterus, again without any conspicuous cause
(RBC count: 1.45 T/L; Hb level: 43 g/L; Ht level: 12.7%; reticulocyte count: 13%; bilirubin level: 3.29 mg/dL;
leukocyte count: 2.4 G/L; platelet count: 120 G/L). Her spleen was felt 4 cm below the costal margin.
Osmotic resistance was reduced, yet moderately: 50% hemolysis for 0.049 g/L NaCl versus 0.040 to 0.046 g/L in controls.
Incubated osmotic tests yielded more disturbed results: 50% hemolysis for 0.076 g/L NaCl, vs. 0.048-0.059 g/L in controls.
The blood film showed only a few spherocytes. The leukocyte count (3.0 to 5.4 G/L) and the platelet count (150-178 G/L) was normal.
The patient was transfused, but recovery was only partial (Hb level: 90 to 110 g/L:
RBC count: 2.9 to 3.5 T/L; elevated reticulocytes).
During the period from 1988 to 1989, routine hemostasis tests
(bleeding time, prothrombin level. partial thromboplastin time) were always normal.