CASE I

G. J, a 32-year old, male, farmer, from Piddig, Ilocos Norte

HPI:
3 months PTA, the patient started to have easy fatigability when doing moderate activities. He was
also noticed to have pallor.
1 month PTA, he noticed a gradually enlarging abdomen. There was no tenderness noted. No
jaundice.
Progression of fatigability & the enlarging abdomen caused him to seek consult.

Personal History:
Occasional smoker & alcoholic beverage drinker
Medical history: unremarkable
Family History: unremarkable

PE
Conscious, coherent, ambulatory
BP: 130/80 HR: 98 RR: 20 T: 37.3C
Pale palpebral conjunctivae, anicteric sclerae
Symmetrical chest expansion, no retraction, dullness on the right lower lobe on percussion
Adynamic precordium, AB at 5th ICS, left MCL, with hemic murmur
Globular abdomen, with normoactive bowel sounds, soft, Traubes space obliterated, liver span 20
cm RMCL, palpable splenic notch
Pale nailbeds

Questions:
1. What is your initial impression?
2. What initial diagnostic exams will you request? What is your expected results?
(laboratory results will be discussed during class)
Thalassemia: (Laboratory)
CBC with Differential:
Mean cell volume: >75f
o Initially low at time of diagnosis
 Hematocrit: 30-33%

Peripheral blood smear:

Microcytic
Hypochromic
Variable size & shape (anisocytosis & poikilocytosis)
o Elliptical & teardrop-shaped
Nucleated RBC
Uneven haemoglobin distribution

Iron studies
Normal iron levels
Normal porphyrin

Differentials History Physical Exam Diagnostics Others

Iron deficiency hx of poor dietary iron pallor, dyspnoea, FBC with peripheral upper GI
intake, coeliac poor exercise smear: microcytic endoscopy:
tolerance/ fatigue, anaemia with identification of
disease, Crohn's koilonychia, thrombocytosis source of upper GI
disease, ulcerative angular cheilosis, serum iron studies: bleeding; high
colitis, small bowel glossitis, thinning low serum iron, gastric pH in
resection, peptic ulcer hair, systolic flow high total iron- achlorhydria
murmur; binding capacity, colonoscopy:
disease, regular
haemorrhoids, low ferritin, high identification of
running, chronic blood fresh blood or soluble transferrin source of lower GI
loss (melaena, melaena on rectal receptor bleeding or chronic
haematuria, examination; immunoglobulin A- infammation
evidence of tissue stool microscopy:
haemoptysis, frequent
pregnancy; transglutaminase visualisation of
blood donation, self- adnexal masses or (IgA-tTG) test: hookworm,
harm), pica, salicylate fibroids positive in coeliac whipworm, or
 ingestion, gastric disease Schistosoma eggs
bypass, hookworm faecal occult blood:
positive if GI
infestation, bleeding
Myelodysplastic history of prior pallor, petechiae, FBC: macrocytic bone marrow
syndrome exposure to purpura anaemia with aspiration and
leukopenia, macro- biopsy:
petroleum distillates ovalocytes; myeloblasts with
(especially benzene), associated immature
chemotherapy, or cytopenias include precursors
radiotherapy; fever, neutropenia and cytogenetics of
thrombocytopenia bone marrow
chills, fatigue,
biopsy: multiple
weakness, recurrent chromosomal
infection, anorexia, translocations
night sweats, possible, especially
5q-, 7q-, or trisomy
shortness of breath,
8 (+8)
easy bruising
Acute history of prior pallor, petechia, FBC with peripheral bone marrow
myelogenous chemotherapy or purpura, dyspnoea, smear: aspirate and
leukaemia tachycardia pancytopenia, biopsy: 20%
radiotherapy/ UV; with 20% blasts; blasts
malaise, night sweats, normocytic
fatigue, easy bruising anaemia; may see
or bleeding, recurrent hypereosinophilia
More
infections, fever, bony reticulocyte count:
tenderness, epistaxis, <2%
bleeding gums,
gingival hyperplasia
Chronic usually in middle- tender FBC with peripheral cytogenetics:
myelogenous aged patients; splenomegaly, smear: normocytic t(19;22)
leukaemia painful sternum, anaemia; myeloid Philadelphia
fatigue, weight loss, lymphadenopathy, maturing cells, chromosome - bcr-
night sweats, early splenomegaly elevated basophils, abl translocation
satiety, petechiae, and eosinophils serum uric acid:
purpura, recurrent reticulocyte count: elevated
<2%
fevers, bone pain, bone marrow
gouty arthritis aspirate and
biopsy:
hypercellular with
granulocytic
hyperplasia
Thalassemia family history of splenomegaly, FBC with peripheral serum ferritin:
blood disorders, jaundice, smear: microcytic elevated in iron
especially requiring abdominal anaemia with overload
repeated distension, mean corpuscular
transfusions; icterus; skeletal volume (MCV)
Mediterranean, abnormalities, typically closer to
Middle Eastern, or large head, 70 fL, low mean
Southeast Asian chipmunk facies, corpuscular
descent; variable and misaligned haemoglobin (Hb);
severity ranging teeth seen in beta- target cells seen
from asymptomatic thalassaemia Hb electrophoresis:
to severe intermedia and elevated HbF;
transfusion- major other Hb patterns
dependent consistent with
symptoms respective
thalassaemias