New to Thal... Any advice appreciated.

Hi everyone! My husband and I are new to this forum and also new to Thal. Our son turned 2 years old a couple of days ago and we received his lab results from his pediatrician. This was his second CBC that was done within 2 months. He displays no symptoms but his labs are abnormal. His pediatrician is suspecting that he has Thalassemia and is referring us to a Hematologist at Children's Hospital LA. Like most parents, we are completely frightened and praying for the best outcome. Attached are his abnormal lab values, normal ref range in parentheses. Thanks for reading.

RBC  5.35 H                                 (3.70-5.30)
MCV 68 L                                     (75-95)
RDW-CV 20 H                               (11-16)
NEUTROPHILS 24.7 L                    (38-70)
LYMPH 64.6 H                              (21-49)
EST PLATELETS                            SLIGHTLY INCREASED
RBC MORPHOLOGY                       1+ MICROCYTOSIS
PLATELET COUNT  413 H              (150-400)

Do you have the hemoglobin level or hematocrit? It's possibly thal minor, but more information is needed. Thal minor is not a serious condition like thal major, so it's no cause for alarm. LA Children's has one of the top thalassemia centers on earth. They will be able to distinguish thal minor from iron deficiency.

Hi Andy,

Thanks so much for your reply! I will include the normal lab values including the Hb/Hct.

WBC 10.2                    (6.0-17.5)
HEMOGLOBIN 12.2       (10.5-13.5)
HEMATOCRIT 36          (34-43)
MCH 22.8
MCHC 33.5                   (33-35)
STAB 0.1                      (0.0-8.0)
MONOS 5.7                  (0-14)
EOS 4.4                       (0-7)
BASOS 0.5                   (0-2)

IRON/TIBC PANEL
SERUM IRON 91           (45-160)
T.I.B.C. 368                 (228-428)
UIBC 277                    (110-370)
PERCENT SATURATION 25 (22-52)

HEMOGLOBINOPATHY BYHPLX
TYPE  AA2
A1 96.2                       (95.0-98.0)
F <1.0                        (<1.10)
A2 3.0                        (1.0-4.0)
E 0.0                           (0.0)
S 0.0                           (0.0)
*NORMAL HEMOGLOBINELECTROPHERESIS PATTERN DETECTED
C 0.0                           (0.0)

Oops, meant *HEMOGLOBINOPATHY BY HPLC

The low MCV and MCH and higher than normal RBC all suggest thal minor, but the hemoglobin electrophoresis results are all normal. In beta minor, there are usually higher than normal readings for HbA2 and HbF. The iron numbers look good, too.

There is absolutely nothing to be concerned about. At the most, it's thal minor. If it is thal minor, it may be alpha thal, as the electrophoresis is normal. I do think you should pursue a further diagnosis, as all thal carriers should be made aware that they are carriers, so they can choose to avoid having children with other carriers when they are adults. LA Children's will be able to tell you for certain if your child is a carrier. If so, that means that one of the parents is also a carrier and any other children would also have a chance of being a carrier.

Andy, thank you so much for responding to me and for giving me peace of mind. I have been worried sick, but feel much better. We will be seeing a hematologist at CHLA and see what he thinks. I will keep you updated, thank you again!

As Andy mentions it seems Thal (Minor). I would suggest to get the DNA testing done and get the clear picture so that the family can plan accordingly.

Thank you Narendra for your advice!