A very gracious hello to everybody. I have just recently come across you site and I seem to spend all my time reading about all of your experiences. Thank you all so very much for sharing. I am soon to be 59 years old with thalassemia, I have not been officially told what kind of thalassemia. I have just recently been seen by hematology, at the moment I'm taking folic acid 1 mg-3 times a day and not scheduled to go back to hematology for 3 months to check blood work and splenomegaly (17 cm), unless pain in side becomes worse. I'd like to share my results and if anybody can share some advise. I have some blood results below, and the dna testing I tried to narrow the information sent as it was very long.
I'm not sure about a lot of areas after reading your all's information. I do know that I feel that you all seem to know what your talking about and I feel I can trust you guys. Most prevalent in my mind currently: how to raise my blood counts (red, white & platelets), how to get my spleen to shrink and is it enlarged from thalassemia, should I be concerned about iron overload. I hope this is not too much information. Thanks up front for your help.
My levels that are above/below normal are:
WBC - 3.1
HGB - 9.3
HCT - 29.5
PLT - 131
RDW - 19.0
MCV - 63.2
MCH - 19.9
MCHC- 30.0
FERRITIN 370
HEMOGLOBIN A 92.9 L >96.0 %
HEMOGLOBIN F 1.2 <2.0 %
HEMOGLOBIN A2 5.9 H 1.8-3.5 %
C-Z ELECTROPHORESIS Confirms
FOLATE, SERUM 7.9 5.5 ng/mL
ALPHA 1 GLOBULIN 0.3 0.2-0.3 g/dL
ALPHA 2 GLOBULIN 0.4 L 0.5-0.9 g/dL
BETA 1 GLOBULIN 0.3 L 0.4-0.6 g/dL
BETA 2 GLOBULIN 0.2 0.2-0.5 g/dL
GAMMA GLOBULIN 0.7 L 0.8-1.7 g/dL
GLOBULIN 1.4 L 1.9-3.7 g/dL (calc)
ALBUMIN/GLOBULIN RATIO 3.6 H 1.0-2.5 (calc)
BILIRUBIN, TOTAL 2.8 H 0.2-1.2 mg/dL
*HAPTOGLOBIN
<15 L 43-212 (mg/dL)
RESULTS VERIFIED BY REPEAT ANALYSIS
IMMUNOFIXATION IGA,IGG,IGM QT.IMMUNOFIXATION SERUM IMMUNOGLOBULIN
IMMUNOFIXATION, SERUM
INTERPRETATION
NO MONOCLONAL PROTEIN DETECTED
IMMUNOGLOBULINS
IMMUNOGLOBULIN A
132 81-463 (mg/dL)
IMMUNOGLOBULIN G
761 694-1618 (mg/dL)
IMMUNOGLOBULIN M
69 48-271 (mg/dL)
ANTIBODY ID, TITER, AND TYPING, RBC
ANTIBODY IDENTIFICATION:
NEGATIVE
This test is intended to identify IgG antibodies implicated in hemolytic diseases of the newborn.
It does not routinely detect IgM antibodies and thus is not suitable for screening for irregular
antibodies prior to transfusion.
This assay is a screening test for the detection of red blood cell antibodies. The test is not to
be used for pretransfusion screening or for the medical management of an alloimmunized pregnancy.
KAPPA/LAMBDA LIGHT CHAINS FREE W/RATIO RFL IFE, S
KAPPA LIGHT CHAIN, FREE, SERUM
11.2 3.3-19.4 (mg/L)
LAMBDA LIGHT CHAIN, FREE, SERUM
12.7 5.7-26.3 (mg/L)
KAPPA/LAMBDA LIGHT CHAINS FREE WITH RATIO, SERUM
0.88 0.26-1.65
Free kappa/lambda ratio in serum of normal individuals is 0.26-1.65. Excess production of free kappa or lambda
light chains alters the ratio. Ratios outside the normal range are attributed to the presence of monoclonal free
light chains. Monoclonal free light chains are found in the serum of patients with multiple myeloma,
Waldenstrom's macroglobulinemia, mu-heavy chain disease, primary amyloidosis, light chain deposition disease,
monoclonal gammopathy of undetermined significance, and lymphoproliferative disorders. Measurement of free light
chain concentration in serum is useful for diagnosis, prognosis,monitoring disease activity and following
response to therapy of these disorders.
DIRECT ANTIGLOBULIN TEST (DAT)
DIRECT ANTIGLOBULIN TEST (DAT)
NEGATIVE
NEGATIVE
Performing
BETA-GLOBIN DNA MUTATIONS see note
RESULT: HETEROZYGOUS POSITIVE FOR THE GLN39X BETA-GLOBIN MUTATION AND THE c.*96T>C BETA-GLOBIN VARIANT
INTERPRETATION: DNA testing indicates that this individual is positive for one copy each of the
Gln39X beta-globin mutation and the c.*96T>C beta-globin variant. At this time, we cannot determine if these changes are located on the same
or different chromosomes.
COMPOUND HETEROZYGOUS FOR TWO BETA THALASSEMIA
MUTATIONS.
1. A BETA ZERO MUTATION, HBB:pQ39X
2. A MILD BETA PLUS MUTATION, c.*+96T>C
Comment:
The first mutation is the more serious mutation as homozygotes have a severe transfusion dependent beta thalassemia major phenotype. The second mutation is a
very mild mutation and homozygotes are expected to have a phenotype of a thalassemia trait. It is assumed that each of these mutations is on a
separate chromosome. It is also possible that they are on the same chromosome. Testing this patient's parents would be helpful in making this distinction.
If this evaluation was done in the context of genetic counseling, partner screening for beta thalassemia is recommended (test code 17365X[12658]). Individuals with one copy of a beta zero or severe beta plus mutation and five or more alpha globin genes may have a beta thalassemia intermedia phenotype.