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Forum Name: Hematology Topics

Question: Anemia or thalassemia - Correct diagnosis?


 ihallal - Sun Sep 16, 2007 12:51 pm

We are a Mediterranean family (from Lebanon). 1 ½ yrs ago we had a CBC test done for my son Adam who was 3.5 yrs old at the time. His CBC results were:
CBC Test in May 2006 (Adam 3.5 yrs old)
WBC (10^3/uL): 8.7 Range (4.6-10.8)
RBC (10^6/uL): 5.06 Range (4.7-10.8)
HGB (gm/dL): 9.7 Range (14-18)
HCT (%): 29.5 Range (42-52)
MCV (fl): 58.2 Range (80-94)
MCH (pg): 19.1 Range (27-31)
MCHC (gm/dl): 32.8 Range (33-37)
RDW (%): 17.5 Range (11.5-14.5)
Platelets (10^3/uL): 454 Range (130-430)
MPV(fl): 7.3 Range (7.4-10.4)
Lymphocytes (%): 43.2 Range (20-51)
Monocytes (%): 6.9 Range (1.7-9.3)

Up until May 2006 Adam was consuming daily intake around 6-7 milk bottles (300 ml ea.) from powdered iron fortified cow milk noting that he was finicky with regular/normal food (my wife doesn’t eat red meat, however Adam’s meat intake was from chicken & fish at least twice a week). Other than looking skinny and pale he is active and sharp/smart.
After the test results we limited Adam’s milk intake (since June 2006) to only 1 cup in the morning and concentrated on daily multivitamins and iron supplements. We also consulted immediately a Hematologist and done G6PD tests for the entire family and were all negative. My wife and I also did a CBC test and both of our results came normal within range. A far as we know there are no thalassemia cases in both of our families (nor immediate nor distant relatives). The Hematologist diagnosed the matter as iron deficiency and advised to improve Adam’s diet. We resumed the iron supplements but red meat was not a weekly meal and Adam remained finicky about food.
Adam’s pediatrician alarmed us not to blindly administer iron supplements and to make a proper diagnosis for the case. We stopped administering the iron supplement and about 2 months later we did another CBC test for Adam and results were very close (somehow) to the previous test .
CBC Test in May 2007 (Adam 4.5 yrs old)
WBC (10^3/uL): 7.9 (4.6-10.8)
RBC (10^6/uL): 4.75 (4.7-6.1)
HGB (gm/dL): 8.8 L (14-18)
HCT (%): 26.9 L (42-52)
MCV (fl): 56.7 L (80-94)
MCH (pg): 18.6 L (27-31)
MCHC (gm/dl): 32.8 L (33-37)
RDW (%): 16 H (11.5-14.5)
Platelets (10^3/uL): 389 (130-430)
MPV(fl): 8.3 (7.4-10.4)
Lymphocytes (%): 28.4 (20-51)
Monocytes (%): 8 (1.7-9.3)
Iron (umol/L): 5.09 L (7.1-28.3)

We again resumed the iron supplements in June 2007 and in August 2007 we consulted another pediatrician and conducted for Adam electroferrosis, CBC, retic, smear and ferritin tests shown below.
CBC Test in August 2007 (Adam 4.75 yrs old)
WBC (10^3/uL): 7.2 (4.6-10.8)
RBC (10^6/uL): 5.18 (4.7-6.1)
HGB (gm/dL): 9.5 L (14-18)
HCT (%): 30 L (42-52)
MCV (fl): 57 L (80-94)
MCH (pg): 18 L (27-31)
MCHC (gm/dl): 32 L (33-37)
RDW (%): 17 H (11.5-14.5)
Platelets (10^3/uL): 484 H (130-430)
Polymorphonuclears: 46 (40-65)
Lymphocytes (%): 44 H (25-40)
Monocytes (%): 6 (2-8)
ABS Neutrophil Count 3.3 (1.6-7.2)
Eosinophils (%): 4 (0-4)
Reticulocytes Count 0.8 (0.2-2.0)

The note on the test states:
RBCs: Slight anisopoikilocytosis and hypochromia marked microcytosis cigar-shaped tear-drop and few RBCs fragments seen.
WBCs: No morphological abnormalities seen.
Plts: Adequate, normal in size and shape.

Test: Hgb Fractions
Hct: 28%
MCV: 58 fl
Hemoglobin A1: 97.2% N:>96%
Hemoglobin A2: 1.9% N: 2.2-3.2%
Hemoglobin F: 0.9% N: <1.0%
Note on the test states:
A decrease in HbA2 expression (<2%) is observed in patients with alpha – thalassemia (3 non-functional alfa genes: HbH), in severe iron deficiency, in carriers of alfa-Beta-thalassemia, in the presence of certain mutants of the alfa or beta chains of hemoglobin, in congenital sideroblastic anemia and, as an artefact, in “aged” specimens.

The pediatrician suspects thalassemia while the new hematologist doesn’t rule out iron deficiency . Where do we go from here ? What additional tests are required to make an accurate diagnosis? (Help). !!!!!!

Adam is still pale, active, smart and fun. He is now eating red meat at least 3 times a week on regular basis and being given iron supplements twice a day 2 hrs after food. This began 4 weeks ago.
The only thing in Adam health history is that he had tested positive for E-coli when he was 6 months old and we have given him the required medicine. The doctor alarmed to repeat the test after 3 months as it may return and indeed Adam tested (+) for E-coli 3 months later as was alarmed and we treated it again.
 Dr. Chan Lowe - Sun Sep 16, 2007 11:54 pm

User avatar Hi Ihallal,

Distinguishing iron deficiency from thalassemia can be difficult. Your son's testing reveal a few things that make me think he more likely has iron deficiency. First, his MCV (a marker of red blood cell size) is small. This goes along with both iron deficiency and thalassemia. However, this RDW is elevated. This is a measure of the variety in red cell size. With thalassemia all the red cells tend to be small, causing the RDW to be low. With iron deficiency the bone marrow is trying to make new cells to replenish the supply. These new cells are larger causing the RDW to elevate.

This would be supported by his essentially normal hemoglobin electrophoresis as well as his somewhat low iron level.

I would recommend he first have his iron deficiency completely corrected. This can typically be done with a six week course of replacement dosing iron supplements (more iron than is in a multivitamin). If his MCV remains low or his anemia does not correct from this I would recommend retesting his iron levels, and a test called the "Total Iron Binding Capacity" which will be high in iron deficiency because the lack of iron leaves a large capacity to bind more. If his iron levels are normal I would suggest repeating the electrophoresis at that point.

It is possible to have both iron deficiency and thalassemia. To make this diagnosis reliably the iron deficiency needs to be corrected first.

Best wishes.

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